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
COG1	gene	COG1	Expert list;Expert Review Red;Literature	Skeletal Dysplasia_Fetal		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIg - MIM#611209				16537452;19008299;17904886;11980916;18462449		False	1	0;100;0	0.225	True		ENSG00000166685	ENSG00000166685	HGNC:6545													
MMP13	gene	MMP13	Expert Review Red;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services	Skeletal Dysplasia_Fetal		Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Metaphyseal anadysplasia 1 (MIM#602111)				19615667;24781753;24648384		False	1	50;0;50	0.225	True		ENSG00000137745	ENSG00000137745	HGNC:7159													
NEK9	gene	NEK9	Expert list;Expert Review Red	Skeletal Dysplasia_Fetal		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	"Lethal congenital contracture syndrome 10, MIM#	617022;Skeletal dysplasia"				26908619		False	1	0;0;100	0.225	True		ENSG00000119638	ENSG00000119638	HGNC:18591													
SERPINF1	gene	SERPINF1	Expert Review Red;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services	Skeletal Dysplasia_Fetal		Skeletal disorders	Unknown							False	1	0;0;100	0.225	True		ENSG00000132386	ENSG00000132386	HGNC:8824													
SP7	gene	SP7	Expert Review Red;Genomics England PanelApp;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services	Skeletal Dysplasia_Fetal		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type XII, MIM# 613849						False	1	0;0;100	0.225	True		ENSG00000170374	ENSG00000170374	HGNC:17321