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
CTGF	gene	CTGF	Expert Review Amber;Literature	Skeletal Dysplasia_Fetal		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Kyphomelic dysplasia MONDO:0008881				39506047		False	2	0;100;0	0.225	True		ENSG00000118523	ENSG00000118523	HGNC:2500													
DHCR24	gene	DHCR24	Expert list;Expert Review Amber;Literature	Skeletal Dysplasia_Fetal		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Desmosterolosis - MIM#602398				PMID: 21671375		False	2	50;50;0	0.225	True		ENSG00000116133	ENSG00000116133	HGNC:2859													
DNMT3A	gene	DNMT3A	Expert Review Amber;Literature	Skeletal Dysplasia_Fetal		Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Heyn-Sproul-Jackson syndrome, MIM# 618724				30478443		False	2	0;100;0	0.225	True		ENSG00000119772	ENSG00000119772	HGNC:2978													
GNPNAT1	gene	GNPNAT1	Expert Review Amber;Literature	Skeletal Dysplasia_Fetal		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Rhizomelic dysplasia, Ain-Naz type, MIM#619598				36097642;35427807;32591345		False	2	0;100;0	0.225	True		ENSG00000100522	ENSG00000100522	HGNC:19980													
HYLS1	gene	HYLS1	Expert list;Expert Review Amber;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services	Skeletal Dysplasia_Fetal		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome (MIM#236680)				15843405;18648327;19400947;19656802;32509774;26830932;34212369		False	2	0;100;0	0.225	True		ENSG00000198331	ENSG00000198331	HGNC:26558													
IFT81	gene	IFT81	Expert Review Amber;Melbourne Genomics Health Alliance Perinatal Autopsy Flagship;Victorian Clinical Genetics Services	Skeletal Dysplasia_Fetal		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895				27666822;30080953		False	2	0;50;50	0.225	True		ENSG00000122970	ENSG00000122970	HGNC:14313													
NPR2	gene	NPR2	Expert list;Expert Review Amber;Literature	Skeletal Dysplasia_Fetal		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Acromesomelic dysplasia 1, Maroteaux type - MIM#602875				31555216;16384845;15146390;22870295;24057292;24259409;16384845;24471569		False	2	50;50;0	0.225	True		ENSG00000159899	ENSG00000159899	HGNC:7944