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 BUB1B gene BUB1B Expert Review Green;Literature Familial rhabdomyosarcoma Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 1, 257300 False 3 100;0;0 1.5 False ENSG00000156970 ENSG00000156970 HGNC:1149 CDKN1C gene CDKN1C Expert Review Green;Literature Familial rhabdomyosarcoma Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Beckwith-Wiedemann syndrome, 130650 False 3 100;0;0 1.5 False ENSG00000129757 ENSG00000129757 HGNC:1786 HRAS gene HRAS Expert Review Green;Literature Familial rhabdomyosarcoma Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome, 218040 False 3 100;0;0 1.5 False ENSG00000174775 ENSG00000174775 HGNC:5173 MLH1 gene MLH1 Expert Review Green;Literature Familial rhabdomyosarcoma Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, 276300 False 3 100;0;0 1.5 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert Review Green;Literature Familial rhabdomyosarcoma Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, 276300 False 3 100;0;0 1.5 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Green;Literature Familial rhabdomyosarcoma Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, 276300 False 3 100;0;0 1.5 False ENSG00000116062 ENSG00000116062 HGNC:7329 NBN gene NBN Expert Review Green;Literature Familial rhabdomyosarcoma Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, 251260 False 3 100;0;0 1.5 False ENSG00000104320 ENSG00000104320 HGNC:7652 NF1 gene NF1 Expert Review Green;Literature Familial rhabdomyosarcoma Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis, type 1 162200 False 3 100;0;0 1.5 False ENSG00000196712 ENSG00000196712 HGNC:7765 PMS2 gene PMS2 Expert Review Green;Literature Familial rhabdomyosarcoma Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, 276300 False 3 100;0;0 1.5 False ENSG00000122512 ENSG00000122512 HGNC:9122 RB1 gene RB1 Expert Review Green;Literature Familial rhabdomyosarcoma Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinoblastoma, 180200 False 3 100;0;0 1.5 False ENSG00000139687 ENSG00000139687 HGNC:9884 TP53 gene TP53 Eligibility statement prior genetic testing;Expert list;Expert Review Green Familial rhabdomyosarcoma Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Li-Fraumeni syndrome, 151623 False 3 100;0;0 1.5 False ENSG00000141510 ENSG00000141510 HGNC:11998