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 1.12 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 "Growth retardation with deafness and mental retardation due to IGF1 deficiency 608747" 21396584 False 3 50;50;0 1.12 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 1.12 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 1.12 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 1.12 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 1.12 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 1.12 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 1.12 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 1.12 False ENSG00000146674 ENSG00000146674 HGNC:5472