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
HERC1	gene	HERC1	Literature;Radboud University Medical Center, Nijmegen	Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders	Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders	Growth disorders	BIALLELIC, autosomal or pseudoautosomal	Macrocephaly, dysmorphic facies, and psychomotor retardation (includes overgrowth phenotype), 617011				26138117;27108999;26153217		False	1	0;100;0	1.121	False		ENSG00000103657	ENSG00000103657	HGNC:4867													
IGF2	gene	IGF2	Expert Review Red;UKGTN	Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders	Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders	Growth disorders	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Beckwith-Wiedemann Syndrome				17325026		False	1	100;0;0	1.121	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000167244	ENSG00000167244	HGNC:5466													
PPP2R5D	gene	PPP2R5D	Other	Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders	Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders	Growth disorders	Unknown	Human overgrowth syndrome type						False	1	0;100;0	1.121	False		ENSG00000112640	ENSG00000112640	HGNC:9312