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 Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000171094 ENSG00000171094 HGNC:427 APC gene APC Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000134982 ENSG00000134982 HGNC:583 ASXL1 gene ASXL1 Expert Review;Expert Review Green Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bohring-Opitz syndrome , MIM#605039;Wilms tumour 29446906 False 3 100;0;0 0.131 True ENSG00000171456 ENSG00000171456 HGNC:18318 ATM gene ATM Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000149311 ENSG00000149311 HGNC:795 ATRX gene ATRX Expert Review Green;Literature Cancer Predisposition_Paediatric Cancer X-LINKED: hemizygous mutation in males, biallelic mutations in females ATR-X-related syndrome MONDO:0016980;Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. PMID: 28371217, 29706636, 28371197 False 3 100;0;0 0.131 True ENSG00000085224 ENSG00000085224 HGNC:886 BLM gene BLM Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer BIALLELIC, autosomal or pseudoautosomal Bloom Syndrome MIM# 210900;Short stature, dysmorphic facies;sun-sensitive;immunoglobulin deficiency (IgA, IgG, IgM);erythema;marrow failure;leukaemia;lymphoma;chromosomal instability;predisposition to malignancies 17407155;9285778;7585968;8079989;12242442;11101838 False 3 100;0;0 0.131 True ENSG00000197299 ENSG00000197299 HGNC:1058 BMPR1A gene BMPR1A Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000107779 ENSG00000107779 HGNC:1076 BRAF gene BRAF Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000157764 ENSG00000157764 HGNC:1097 BRCA1 gene BRCA1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000136492 ENSG00000136492 HGNC:20473 BUB1B gene BUB1B Expert list;Expert Review Green Cancer Predisposition_Paediatric Cancer BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 1, MIM# 257300 31081598;31053147 False 3 100;0;0 0.131 True ENSG00000156970 ENSG00000156970 HGNC:1149 CBL gene CBL Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563 25358541;20619386;20543203;20694012 False 3 100;0;0 0.131 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000110395 ENSG00000110395 HGNC:1541 CDH1 gene CDH1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, MIM# 137215 False 3 100;0;0 0.131 True ENSG00000039068 ENSG00000039068 HGNC:1748 CDKN1C gene CDKN1C Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000129757 ENSG00000129757 HGNC:1786 CEBPA gene CEBPA Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukemia, acute myeloid, MIM# 601626 15575056;32430494;31309983 False 3 0;0;0 0.131 True ENSG00000245848 ENSG00000245848 HGNC:1833 CHEK2 gene CHEK2 Expert Review;Expert Review Green Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Li-Fraumeni syndrome, MIM#609265 10617473 False 3 100;0;0 0.131 True ENSG00000183765 ENSG00000183765 HGNC:16627 CTR9 gene CTR9 Expert Review;Expert Review Green Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Wilms tumour, MONDO:0006058, CTR9-related 25099282;29292210 False 3 100;0;0 0.131 True ENSG00000198730 ENSG00000198730 HGNC:16850 DDB2 gene DDB2 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000134574 ENSG00000134574 HGNC:2718 DICER1 gene DICER1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000100697 ENSG00000100697 HGNC:17098 DIS3L2 gene DIS3L2 Expert list;Expert Review Green Cancer Predisposition_Paediatric Cancer BIALLELIC, autosomal or pseudoautosomal "Perlman syndrome, MIM# 267000" False 3 100;0;0 0.131 True ENSG00000144535 ENSG00000144535 HGNC:28648 ELP1 gene ELP1 Expert Review Green;Literature Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paediatric medulloblastoma sonic hedgehog subtype 32296180 False 3 100;0;0 0.131 True ENSG00000070061 ENSG00000070061 HGNC:5959 ERCC1 gene ERCC1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000134899 ENSG00000134899 HGNC:3437 FANCA gene FANCA Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group A, MIM# 227650;MONDO:0009215 10094191 False 3 100;0;0 0.131 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCC gene FANCC Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000115392 ENSG00000115392 HGNC:20748 GATA2 gene GATA2 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Leukemia, acute myeloid, susceptibility to}, MIM# 601626 False 3 100;0;0 0.131 True ENSG00000179348 ENSG00000179348 HGNC:4171 GPC3 gene GPC3 Expert Review;Expert Review Green Cancer Predisposition_Paediatric Cancer X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 False 3 100;0;0 0.131 True ENSG00000147257 ENSG00000147257 HGNC:4451 GPR161 gene GPR161 Expert Review Green;Literature Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Predisposition to paediatric medulloblastoma 31609649 False 3 100;0;0 0.131 True ENSG00000143147 ENSG00000143147 HGNC:23694 HRAS gene HRAS Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome, MIM# 218040 False 3 100;0;0 0.131 True ENSG00000174775 ENSG00000174775 HGNC:5173 KDM3B gene KDM3B Expert Review Green;Literature Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diets-Jongmans syndrome, MIM# 618846;Cancer predisposition" PMID: 30885698;29351919 False 3 100;0;0 0.131 True ENSG00000120733 ENSG00000120733 HGNC:1337 KRAS gene KRAS Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000133703 ENSG00000133703 HGNC:6407 MAP2K1 gene MAP2K1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000126934 ENSG00000126934 HGNC:6842 MAX gene MAX Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Pheochromocytoma, susceptibility to}, MIM# 171300 21685915 False 3 0;0;100 0.131 True ENSG00000125952 ENSG00000125952 HGNC:6913 MEN1 gene MEN1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000133895 ENSG00000133895 HGNC:7010 MLH1 gene MLH1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000116062 ENSG00000116062 HGNC:7329 NBN gene NBN Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM# 251260;MONDO:0009623 33488600;33082212 False 3 100;0;0 0.131 True ENSG00000104320 ENSG00000104320 HGNC:7652 NF1 gene NF1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000186575 ENSG00000186575 HGNC:7773 NHP2 gene NHP2 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2, MIM# 613987 18523010;31985013 False 3 100;0;0 0.131 True ENSG00000145912 ENSG00000145912 HGNC:14377 NRAS gene NRAS Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000213281 ENSG00000213281 HGNC:7989 PALB2 gene PALB2 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000083093 ENSG00000083093 HGNC:26144 PAX5 gene PAX5 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Leukemia, acute lymphoblastic, susceptibility to, 3}, MIM# 615545 24013638;30643249;33036026 False 3 100;0;0 0.131 True ENSG00000196092 ENSG00000196092 HGNC:8619 PHOX2B gene PHOX2B Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000109132 ENSG00000109132 HGNC:9143 PIK3CA gene PIK3CA Expert Review;Expert Review Green Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM# 602501 False 3 100;0;0 0.131 True ENSG00000121879 ENSG00000121879 HGNC:8975 PMS2 gene PMS2 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000122512 ENSG00000122512 HGNC:9122 PRKAR1A gene PRKAR1A Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000108946 ENSG00000108946 HGNC:9388 PTCH1 gene PTCH1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000132155 ENSG00000132155 HGNC:9829 RB1 gene RB1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000139687 ENSG00000139687 HGNC:9884 RECQL4 gene RECQL4 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000160957 ENSG00000160957 HGNC:9949 REST gene REST Expert Review;Expert Review Green Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Wilms tumor 6, susceptibility to}, MIM# 616806 26551668;34308104 False 3 100;0;0 0.131 True ENSG00000084093 ENSG00000084093 HGNC:9966 RET gene RET Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000165731 ENSG00000165731 HGNC:9967 RUNX1 gene RUNX1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukemia, acute myeloid, MIM# 601626 False 3 100;0;0 0.131 True ENSG00000159216 ENSG00000159216 HGNC:10471 SDHA gene SDHA Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 5, MIM# 614165 False 3 100;0;0 0.131 True ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF2 gene SDHAF2 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 2, MIM# 601650 False 3 100;0;0 0.131 True ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 4, MIM# 115310 False 3 100;0;0 0.131 True ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 3, MIM# 605373 False 3 100;0;0 0.131 True ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 1, with or without deafness, MIM# 168000;Pheochromocytoma, MIM# 171300 False 3 100;0;0 0.131 True ENSG00000204370 ENSG00000204370 HGNC:10683 SH2B3 gene SH2B3 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Predisposition to haematological malignancies 26457647;23908464;31102422;31173385 False 3 100;0;0 0.131 True ENSG00000111252 ENSG00000111252 HGNC:29605 SHOC2 gene SHOC2 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000108061 ENSG00000108061 HGNC:15454 SMAD4 gene SMAD4 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA4 gene SMARCA4 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000099956 ENSG00000099956 HGNC:11103 SOS1 gene SOS1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000115904 ENSG00000115904 HGNC:11187 STK11 gene STK11 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000118046 ENSG00000118046 HGNC:11389 SUFU gene SUFU Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000107882 ENSG00000107882 HGNC:16466 TERT gene TERT Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000164362 ENSG00000164362 HGNC:11730 TP53 gene TP53 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000141510 ENSG00000141510 HGNC:11998 TRIM28 gene TRIM28 Expert Review;Expert Review Green Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumour, MONDO:0006058, TRIM28-related 30694527 False 3 100;0;0 0.131 True ENSG00000130726 ENSG00000130726 HGNC:16384 TRIM37 gene TRIM37 Expert Review;Expert Review Green Cancer Predisposition_Paediatric Cancer BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism, MIM# 253250 34309235;19334051;17100991 False 3 100;0;0 0.131 True ENSG00000108395 ENSG00000108395 HGNC:7523 TRIP13 gene TRIP13 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 3, MIM# 617598 28553959 False 3 100;0;0 0.131 True ENSG00000071539 ENSG00000071539 HGNC:12307 TSC1 gene TSC1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000103197 ENSG00000103197 HGNC:12363 VHL gene VHL Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000134086 ENSG00000134086 HGNC:12687 WRN gene WRN Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer BIALLELIC, autosomal or pseudoautosomal Werner syndrome, MIM# 277700;MONDO:0010196 28476236;8602509;8968742;9012406 False 3 100;0;0 0.131 True ENSG00000165392 ENSG00000165392 HGNC:12791 WT1 gene WT1 Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000184937 ENSG00000184937 HGNC:12796 XPA gene XPA Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert Review Green;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer Unknown False 3 0;0;0 0.131 False ENSG00000154767 ENSG00000154767 HGNC:12816 FBXW7 gene FBXW7 Expert Review Amber;Literature Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumour, hereditary, MONDO:0003321, FBXW7-related PMID: 30885698;PMID: 26482194 False 2 50;50;0 0.131 True ENSG00000109670 ENSG00000109670 HGNC:16712 FH gene FH Expert Review Amber;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leiomyomatosis and renal cell cancer, MIM# 150800 False 2 0;100;0 0.131 True ENSG00000091483 ENSG00000091483 HGNC:3700 NYNRIN gene NYNRIN Expert Review Amber;Literature Cancer Predisposition_Paediatric Cancer BIALLELIC, autosomal or pseudoautosomal Wilms tumour predisposition PMID: 30885698 False 2 0;100;0 0.131 True ENSG00000205978 ENSG00000205978 HGNC:20165 BAP1 gene BAP1 Expert Review Red;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tumor predisposition syndrome, MIM# 614327 21941004;23684012;21874000;21874003 False 1 0;0;100 0.131 True ENSG00000163930 ENSG00000163930 HGNC:950 CDC73 gene CDC73 Expert Review Red;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parathyroid carcinoma, MIM# 608266 False 1 0;0;100 0.131 True ENSG00000134371 ENSG00000134371 HGNC:16783 CDK4 gene CDK4 Expert Review Red;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Melanoma, cutaneous malignant, 3}, MIM# 609048 False 1 0;0;100 0.131 True ENSG00000135446 ENSG00000135446 HGNC:1773 CDKN2A gene CDKN2A Expert Review Red;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Malignant Melanoma and Tumors of the Nervous system;Familial Uveal Melanoma;Pancreatic cancer False 1 0;0;100 0.131 True ENSG00000147889 ENSG00000147889 HGNC:1787 EPCAM gene EPCAM Expert Review Red;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer, hereditary nonpolyposis, type 8, MIM# 613244 False 1 0;0;100 0.131 True ENSG00000119888 ENSG00000119888 HGNC:11529 FANCM gene FANCM Expert Review Red;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia 28837162 False 1 0;0;100 0.131 True ENSG00000187790 ENSG00000187790 HGNC:23168 MUTYH gene MUTYH Expert Review Red;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer BIALLELIC, autosomal or pseudoautosomal Adenomas, multiple colorectal, MIM# 608456 False 1 0;0;100 0.131 True ENSG00000132781 ENSG00000132781 HGNC:7527 NOP10 gene NOP10 Expert Review Red;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, MIM#224230 17507419 False 1 0;0;100 0.131 True ENSG00000182117 ENSG00000182117 HGNC:14378 RAD51C gene RAD51C Expert Review Red;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group O, MIM# 613390 20400963;29278735 False 1 0;0;100 0.131 True ENSG00000108384 ENSG00000108384 HGNC:9820 TMEM127 gene TMEM127 Expert Review Red;Victorian Clinical Genetics Services Cancer Predisposition_Paediatric Cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Pheochromocytoma, susceptibility to}, MIM# 171300 False 1 0;0;100 0.131 True ENSG00000135956 ENSG00000135956 HGNC:26038