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 Emory Genetics Laboratory;Expert Review Red Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes Brain, CNS, and PNS Cancer;familial neuroblastoma False 1 0;0;0 1.14 True ENSG00000171094 ENSG00000171094 HGNC:427 ATM gene ATM Emory Genetics Laboratory;Expert Review Red Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes Brain, CNS, and PNS Cancer False 1 0;0;0 1.14 True ENSG00000149311 ENSG00000149311 HGNC:795 MEN1 gene MEN1 Emory Genetics Laboratory;Expert Review Red Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes Brain, CNS, and PNS Cancer False 1 0;0;0 1.14 True ENSG00000133895 ENSG00000133895 HGNC:7010 NBN gene NBN Emory Genetics Laboratory Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes Brain, CNS, and PNS Cancer False 1 0;0;0 1.14 False ENSG00000104320 ENSG00000104320 HGNC:7652 PALB2 gene PALB2 Emory Genetics Laboratory Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes Brain, CNS, and PNS Cancer False 1 0;0;0 1.14 False ENSG00000083093 ENSG00000083093 HGNC:26144 PHOX2B gene PHOX2B Emory Genetics Laboratory;Expert Review Red Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes Brain, CNS, and PNS Cancer;susceptibility to neuroblastoma False 1 0;0;0 1.14 True ENSG00000109132 ENSG00000109132 HGNC:9143