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 BRAF gene BRAF Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEOPARD syndrome 3 613707;Cardiofaciocutaneous syndrome 115150;Noonan syndrome 7 613706 19206169;21396583 False 3 100;0;0 1.87 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157764 ENSG00000157764 HGNC:1097 CBL gene CBL Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 20619386;20543203;19571318 False 3 100;0;0 1.87 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000110395 ENSG00000110395 HGNC:1541 HRAS gene HRAS Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome, 218040 16170316;16969868;16443854;21396583;32499600 False 3 100;0;0 1.87 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000174775 ENSG00000174775 HGNC:5173 KRAS gene KRAS Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 3 609942;Cardiofaciocutaneous syndrome 2 615278 PMID: 21396583 False 3 100;0;0 1.87 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000133703 ENSG00000133703 HGNC:6407 LZTR1 gene LZTR1 Expert Review;Expert Review Green RASopathies RASopathies Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Noonan syndrome 10 616564;Schwannomatosis-2, susceptibility to 615670;Noonan syndrome 2, 605275 25795793;29469822 False 3 100;0;0 1.87 True ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 3, 615279;LEOPARD syndrome;?Noonan syndrome 21396583;23321623 False 3 100;0;0 1.87 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;UKGTN RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 4 615280 21396583;23379592 False 3 100;0;0 1.87 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000126934 ENSG00000126934 HGNC:6842 MAP4K4 gene MAP4K4 Expert Review Green;Literature RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental differences;multiple congenital anomalies 37126546 False 3 100;0;0 1.87 False Other ENSG00000071054 ENSG00000071054 HGNC:6866 MRAS gene MRAS Expert list;Expert Review Green RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 11, OMIM:618499;Noonan syndrome 11, MONDO:0032786 28289718;31173466;31108500;31173466 False 3 100;0;0 1.87 False ENSG00000158186 ENSG00000158186 HGNC:7227 NF1 gene NF1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis-Noonan syndrome 601321;Neurofibromatosis, type 1 162200 16380919;19845691;12707950 False 3 100;0;0 1.87 False ENSG00000196712 ENSG00000196712 HGNC:7765 NRAS gene NRAS Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 6 613224;Cardio-Facio-cutanenous syndrome 19966803;19775298 False 3 100;0;0 1.87 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000213281 ENSG00000213281 HGNC:7989 PPP1CB gene PPP1CB Expert Review Green;Other RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair 27264673; 28211982; 27681385 False 3 0;0;0 1.87 False ENSG00000213639 ENSG00000213639 HGNC:9282 PTPN11 gene PTPN11 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEOPARD syndrome 1 151100;Noonan syndrome 1 163950 17603483;11704759;12529711;12634870;15384080;15240615;16263833;17497712;18678287 False 3 100;0;0 1.87 True Other - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEOPARD syndrome 2 611554;Noonan syndrome 5 611553 17603483;17603482 False 3 100;0;0 1.87 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000132155 ENSG00000132155 HGNC:9829 RIT1 gene RIT1 Expert Review Green;Radboud University Medical Center, Nijmegen RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 8 615355 23791108;25124994;24939608 False 3 100;0;0 1.87 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000143622 ENSG00000143622 HGNC:10023 RRAS gene RRAS Expert list;Expert Review Green RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RRAS-related atypical Noonan syndrome 24705357;32815881;34935735 False 3 50;50;0 1.87 False ENSG00000126458 ENSG00000126458 HGNC:10447 RRAS2 gene RRAS2 Expert list;Expert Review Green RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 12, 618624 31130282;31130285 False 3 100;0;0 1.87 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000133818 ENSG00000133818 HGNC:17271 RREB1 gene RREB1 Expert Review Green;Literature RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RASopathy, MONDO:0021060 32938917;38332451;40418122 False 3 67;0;33 1.87 False ENSG00000124782 ENSG00000124782 HGNC:10449 SHOC2 gene SHOC2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like with loose anagen hair 1, 607721 19684605;22528146;23918763 False 3 100;0;0 1.87 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000108061 ENSG00000108061 HGNC:15454 SOS1 gene SOS1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 4 610733 19438935;17143285;17143282;17586837 False 3 100;0;0 1.87 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000115904 ENSG00000115904 HGNC:11187 SOS2 gene SOS2 Expert Review;Expert Review Green RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 9 616559 25795793;26173643 False 3 100;0;0 1.87 True Other - please provide details in the comments ENSG00000100485 ENSG00000100485 HGNC:11188 SPRED1 gene SPRED1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Legius syndrome 611431 17704776;19366998;19443465;21649642;21548021 False 3 100;0;0 1.87 True ENSG00000166068 ENSG00000166068 HGNC:20249 SPRED2 gene SPRED2 Expert Review Green;Literature RASopathies RASopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal developmental delay;intellectual disability;cardiac defects;short stature;skeletal anomalies;a typical facial gestalt 34626534 False 3 100;0;0 1.87 False ENSG00000198369 ENSG00000198369 HGNC:17722 RASA2 gene RASA2 Expert Review Amber;Other RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome? 25049390 False 2 0;100;0 1.87 False ENSG00000155903 ENSG00000155903 HGNC:9872 A2ML1 gene A2ML1 Expert Review Red;Other RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 24939586;25862627;27942422 False 1 0;0;100 1.87 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000166535 ENSG00000166535 HGNC:23336 ISCA-37431-Loss region Expert Review Green;ClinGen RASopathies RASopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown dysmorphic features, cardiac anomalies and mental retardation;613675;variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors;NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME;NF1 MICRODELETION SYNDROME;Chromosome 17q11.2 deletion syndrome, 1.4Mb False 3 0;0;0 1.87 False 17 30780079 31937008 3 60 cnv_loss 17q11.2 recurrent region (includes NF1) Loss