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	Expert Review Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 7, MIM# 613706;Cardiofaciocutaneous syndrome, MIM# 115150			Rasopathy;MONDO:0021060	19206169;18042262		False	3	100;0;0	0.105	True		ENSG00000157764	ENSG00000157764	HGNC:1097													
CBL	gene	CBL	Expert Review Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563			Rasopathy;MONDO:0021060	25358541;20619386;20543203;20694012		False	3	100;0;0	0.105	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													
ERF	gene	ERF	Expert Review Green;Literature	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related			Rasopathy;MONDO:0021060	PMID: 38824261		False	3	100;0;0	0.105	True		ENSG00000105722	ENSG00000105722	HGNC:3444													
HRAS	gene	HRAS	Expert Review Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Costello syndrome, MIM# 218040			Rasopathy;MONDO:0021060	16329078;16372351;16443854		False	3	100;0;0	0.105	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	Expert Review Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 3, MIM# 609942;Cardiofaciocutaneous syndrome 2, MIM# 615278			Rasopathy;MONDO:0021060	16474404;16474405;16773572;17056636;21797849		False	3	100;0;0	0.105	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 Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Noonan syndrome 10;Noonan syndrome 2			Rasopathy;MONDO:0021060	25795793;29469822;30368668;30481304;24362817		False	3	100;0;0	0.105	True		ENSG00000099949	ENSG00000099949	HGNC:6742													
MAP2K1	gene	MAP2K1	Expert Review Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiofaciocutaneous syndrome 3, MIM# 615279			Rasopathy;MONDO:0021060	16439621;17551924;18042262;20301365		False	3	100;0;0	0.105	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	Expert Review Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cardiofaciocutaneous syndrome 4, MIM# 615280			Rasopathy;MONDO:0021060	20358587;16439621;18042262		False	3	100;0;0	0.105	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	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	RASopathy, MONDO:0021060, MAP4K4-related			Rasopathy;MONDO:0021060	37126546		False	3	100;0;0	0.105	True		ENSG00000071054	ENSG00000071054	HGNC:6866													
MAPK1	gene	MAPK1	Expert Review Green;Literature	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 13, MIM#619087;Global developmental delay;Intellectual disability;Behavioral abnormality;Growth delay;Abnormality of the face;Abnormality of the neck;Abnormality of the cardiovascular system;Abnormality of the skin			Rasopathy;MONDO:0021060	32721402		False	3	100;0;0	0.105	True		ENSG00000100030	ENSG00000100030	HGNC:6871													
MRAS	gene	MRAS	Expert list;Expert Review Green	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 11, MIM#618499			Rasopathy;MONDO:0021060	28289718;1173466;31108500;31173466		False	3	100;0;0	0.105	True		ENSG00000158186	ENSG00000158186	HGNC:7227													
NF1	gene	NF1	Expert Review Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurofibromatosis, type 1, MIM# 162200;Neurofibromatosis-Noonan syndrome, MIM# 601321			Rasopathy;MONDO:0021060			False	3	100;0;0	0.105	True		ENSG00000196712	ENSG00000196712	HGNC:7765													
NRAS	gene	NRAS	Expert Review Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 6, MIM# 613224			Rasopathy;MONDO:0021060	19966803;26467218;28594414		False	3	100;0;0	0.105	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;Literature	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome-like disorder with loose anagen hair 2;OMIM # 617506			Rasopathy;MONDO:0021060	PMID: 32476286;28211982;27264673;27681385;27868344		False	3	100;0;0	0.105	True		ENSG00000213639	ENSG00000213639	HGNC:9282													
PTPN11	gene	PTPN11	Expert Review Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines);Noonan syndrome 1, 163950 AD			Rasopathy;MONDO:0021060	11992261;21533187;24935154		False	3	100;0;0	0.105	True	Other	ENSG00000179295	ENSG00000179295	HGNC:9644													
RAF1	gene	RAF1	Expert Review Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 5, MIM# 611553			Rasopathy;MONDO:0021060	17603483;17603482;31145547;31030682;29271604		False	3	100;0;0	0.105	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;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 8, MIM# 615355			Rasopathy;MONDO:0021060	23791108;25124994;24939608;27101134		False	3	100;0;0	0.105	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													
RRAS2	gene	RRAS2	Expert Review Green;Literature	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 12 OMIM #618624			Rasopathy;MONDO:0021060	PMID: 31130282		False	3	100;0;0	0.105	True		ENSG00000133818	ENSG00000133818	HGNC:17271													
SHOC2	gene	SHOC2	Expert Review Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome-like with loose anagen hair 1, MIM# 607721			Rasopathy;MONDO:0021060	19684605;23918763;20882035		False	3	100;0;0	0.105	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	Expert Review Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 4, MIM# 610733			Rasopathy;MONDO:0021060	17143285;17143282;28884940;17586837		False	3	100;0;0	0.105	True		ENSG00000115904	ENSG00000115904	HGNC:11187													
SOS2	gene	SOS2	Expert Review Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 9, MIM# 616559			Rasopathy;MONDO:0021060	25795793;32788663;26173643		False	3	100;0;0	0.105	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000100485	ENSG00000100485	HGNC:11188													
SPRED1	gene	SPRED1	Expert Review Green;Victorian Clinical Genetics Services	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Legius syndrome, MIM# 611431			Rasopathy;MONDO:0021060	17704776;19366998;21548021		False	3	100;0;0	0.105	True		ENSG00000166068	ENSG00000166068	HGNC:20249													
SPRED2	gene	SPRED2	Expert Review Green;Literature	Rasopathy		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Noonan syndrome 14, MIM# 619745			Rasopathy;MONDO:0021060	PMID: 34626534		False	3	100;0;0	0.105	True		ENSG00000198369	ENSG00000198369	HGNC:17722													
TAB2	gene	TAB2	Expert Review Green;Literature	Rasopathy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like;Congenital heart defects, nonsyndromic, 2 (MIM#614980)			Rasopathy;MONDO:0021060	PMID: 34456334		False	3	100;0;0	0.105	True		ENSG00000055208	ENSG00000055208	HGNC:17075													
