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
KCNQ1	gene	KCNQ1	Expert Review Amber;Literature	Imprinting disorders			MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Beckwith-Wiedemann Syndrome				30635621;32393365;30778172		False	2	0;100;0	1.3	True		ENSG00000053918	ENSG00000053918	HGNC:6294													
KCNQ1OT1	gene	KCNQ1OT1	Expert Review Amber;Genomics England PanelApp	Imprinting disorders			MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Beckwith-Wiedemann syndrome OMIM:130650;Russell-Silver Syndrome				22205991;15372379;23511928;30794780;29377879;10220444;32447323;33177595;29047350		False	2	0;100;0	1.3	True		ENSG00000269821	ENSG00000269821	HGNC:6295													
TLE6	gene	TLE6	Expert Review Amber;Literature	Imprinting disorders			BIALLELIC, autosomal or pseudoautosomal	Pre-implantation embryonic lethality  MIM#616814				26537248;25542835		False	2	0;100;0	1.3	True		ENSG00000104953	ENSG00000104953	HGNC:30788