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
DLL3	gene	DLL3	Expert Review Green;Victorian Clinical Genetics Services	Spondylocostal Dysostosis		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300			Spondylocostal dysostosis;MONDO:0000359	10742114;12746394		False	3	100;0;0	0.10	True		ENSG00000090932	ENSG00000090932	HGNC:2909													
HES7	gene	HES7	Expert Review Green;Victorian Clinical Genetics Services	Spondylocostal Dysostosis		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal				Spondylocostal dysostosis;MONDO:0000359			False	3	0;0;0	0.10	False		ENSG00000179111	ENSG00000179111	HGNC:15977													
LFNG	gene	LFNG	Expert Review Green;Victorian Clinical Genetics Services	Spondylocostal Dysostosis		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Spondylocostal dysostosis 3, autosomal recessive MIM#609813			Spondylocostal dysostosis;MONDO:0000359			False	3	0;0;0	0.10	True		ENSG00000106003	ENSG00000106003	HGNC:6560													
MESP2	gene	MESP2	Expert Review Green;Victorian Clinical Genetics Services	Spondylocostal Dysostosis		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal				Spondylocostal dysostosis;MONDO:0000359			False	3	0;0;0	0.10	False		ENSG00000188095	ENSG00000188095	HGNC:29659													
RIPPLY2	gene	RIPPLY2	Expert Review Green;Victorian Clinical Genetics Services	Spondylocostal Dysostosis		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal				Spondylocostal dysostosis;MONDO:0000359			False	3	0;0;0	0.10	False		ENSG00000203877	ENSG00000203877	HGNC:21390													
TBX6	gene	TBX6	Expert Review Green;Victorian Clinical Genetics Services	Spondylocostal Dysostosis		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Spondylocostal dysostosis 5, 122600			Spondylocostal dysostosis;MONDO:0000359	33058178;31015262;30636772;28054739;23335591		False	3	100;0;0	0.10	True		ENSG00000149922	ENSG00000149922	HGNC:11605