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 DGCR8 gene DGCR8 Expert Review Red;Literature Adult solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early-onset multinodular goiter and schwannomatosis 31805011 False 1 0;0;100 2.29 False ENSG00000128191 ENSG00000128191 HGNC:2847 NOP10 gene NOP10 NHS GMS Adult solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, 224230 False 1 0;0;0 2.29 False ENSG00000182117 ENSG00000182117 HGNC:14378 PDGFRA gene PDGFRA Literature Adult solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510;Familial Gastrointestinal stromal tumour;Familial GIST False 1 0;0;0 2.29 False ENSG00000134853 ENSG00000134853 HGNC:8803 RABL3 gene RABL3 Expert Review Red;Literature;Research Adult solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {?Pancreatic cancer, susceptibility to, 5} 618680 31406347 False 1 0;0;0 2.29 True Other ENSG00000144840 ENSG00000144840 HGNC:18072 SPRED1 gene SPRED1 NHS GMS Adult solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Legius syndrome 611431 23875798 False 1 0;0;100 2.29 False ENSG00000166068 ENSG00000166068 HGNC:20249