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 HRAS gene HRAS Other Segmental overgrowth disorders - Deep sequencing Hemimegalencephaly; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 False 1 0;0;0 3.17 False ENSG00000174775 ENSG00000174775 HGNC:5173 KRAS gene KRAS Other Segmental overgrowth disorders - Deep sequencing Hemimegalencephaly; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 False 1 0;0;0 3.17 False ENSG00000133703 ENSG00000133703 HGNC:6407 MTOR gene MTOR UKGTN Segmental overgrowth disorders - Deep sequencing Segmental Overgrowth Syndrome; Hemimegalencephaly; HME 22729223 False 1 0;0;0 3.17 False ENSG00000198793 ENSG00000198793 HGNC:3942 NRAS gene NRAS Other Segmental overgrowth disorders - Deep sequencing Hemimegalencephaly; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 False 1 0;0;0 3.17 False ENSG00000213281 ENSG00000213281 HGNC:7989 TBC1D7 gene TBC1D7 Expert Review;Expert Review Red Segmental overgrowth disorders - Deep sequencing BIALLELIC, autosomal or pseudoautosomal Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000 24515783;23687350 False 1 100;0;0 3.17 False ENSG00000145979 ENSG00000145979 HGNC:21066