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
HMGA2	gene	HMGA2	Expert Review;Expert Review Green	Silver Russell syndrome	Growth restriction	Growth disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Silver-Russell syndrome 5, OMIM:618908;Silver-Russell syndrome 5, MONDO:0020795				29655892		False	3	67;33;0	1.14	False		ENSG00000149948	ENSG00000149948	HGNC:5009													
IGF1	gene	IGF1	Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen	Silver Russell syndrome	Growth restriction	Growth disorders	BIALLELIC, autosomal or pseudoautosomal	Insulin-like growth factor I deficiency, OMIM:608747				21396584 		False	3	50;50;0	1.14	False		ENSG00000017427	ENSG00000017427	HGNC:5464													
IGF1R	gene	IGF1R	Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen	Silver Russell syndrome	Growth restriction	Growth disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Insulin-like growth factor I, resistance to, OMIM:270450				21396585		False	3	50;50;0	1.14	False		ENSG00000140443	ENSG00000140443	HGNC:5465													
IGF2	gene	IGF2	Expert Review Green;UKGTN	Silver Russell syndrome	Growth restriction	Growth disorders	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Silver Russell syndrome, 180860				26154720		False	3	50;50;0	1.14	False		ENSG00000167244	ENSG00000167244	HGNC:5466													
PLAG1	gene	PLAG1	Expert Review;Expert Review Green	Silver Russell syndrome	Growth restriction	Growth disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	SRS;Silver-Russell syndrome				28796236		False	3	0;100;0	1.14	False		ENSG00000181690	ENSG00000181690	HGNC:9045													
CDKN1C	gene	CDKN1C	Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Silver Russell syndrome	Growth restriction	Growth disorders	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Beckwith-Wiedemann syndrome, 130650;IMAGE syndrome, 614732				8841187;20503313;10424811;24065356;22634751		False	1	67;33;0	1.14	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000129757	ENSG00000129757	HGNC:1786													
H19	gene	H19	Emory Genetics Laboratory;Expert Review Red;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Silver Russell syndrome	Growth restriction	Growth disorders	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	"Silver-Russell syndrome	180860"				20007505;16532391		False	1	100;0;0	1.14	True		ENSG00000130600	ENSG00000130600	HGNC:4713													
IGFBP1	gene	IGFBP1	Literature	Silver Russell syndrome	Growth restriction	Growth disorders	Unknown	Silver-Russell Syndrome				10364674		False	1	0;0;0	1.14	False		ENSG00000146678	ENSG00000146678	HGNC:5469													
IGFBP3	gene	IGFBP3	Literature	Silver Russell syndrome	Growth restriction	Growth disorders	Unknown	Silver Russell Syndrome				10364674		False	1	0;0;0	1.14	False		ENSG00000146674	ENSG00000146674	HGNC:5472													
