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 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