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
NLRP2	gene	NLRP2	Expert Review Amber;Literature	Segmental overgrowth disorders - Deep sequencing		Dermatology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Oocyte/zygote/embryo maturation arrest 18, OMIM:620332;oocyte/zygote/embryo maturation arrest 18, MONDO:0957230;Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, MONDO:0016475				26323243;29574422;19300480;30877238;33090377		False	2	0;100;0	4.5	False	Other	ENSG00000022556	ENSG00000022556	HGNC:22948													
