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
AKT3	gene	AKT3	Expert list;Expert Review Amber	Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders	Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders	Growth disorders	Other	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937				28475857;25722288		False	2	0;100;0	1.121	False		ENSG00000117020	ENSG00000117020	HGNC:393													
H19	gene	H19	Emory Genetics Laboratory;Expert Review Amber;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, paternally imprinted (maternal allele expressed)	Beckwith-Wiedemann syndrome (BWS)				18836444		False	2	100;0;0	1.121	True	Other - please provide details in the comments	ENSG00000130600	ENSG00000130600	HGNC:4713													
KCNQ1OT1	gene	KCNQ1OT1	Emory Genetics Laboratory;Expert Review Amber;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, paternally imprinted (maternal allele expressed)	Beckwith-Wiedemann Syndrome, 130650				12949703		False	2	100;0;0	1.121	False	Other - please provide details in the comments	ENSG00000269821	ENSG00000269821	HGNC:6295