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
PTPN14	gene	PTPN14	Expert Review Amber;Genomics England PanelApp;Radboud University Medical Center, Nijmegen	Choanal atresia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Choanal atresia and lymphoedema, MIM#613611;MONDO:0013324				20826270;https://doi.org/10.1016/j.mgene.2017.07.006		False	2	0;100;0	1.6	True		ENSG00000152104	ENSG00000152104	HGNC:9647