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
AGPS	gene	AGPS	Expert Review Green;Victorian Clinical Genetics Services	Chondrodysplasia Punctata		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121				9553082;21990100;25197626		False	3	100;0;0	1.1	True		ENSG00000018510	ENSG00000018510	HGNC:327													
ARSE	gene	ARSE	Expert Review Green;Victorian Clinical Genetics Services	Chondrodysplasia Punctata		Skeletal disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Chondrodysplasia punctata, X-linked recessive, MIM# 302950						False	3	100;0;0	1.1	True		ENSG00000157399	ENSG00000157399	HGNC:719													
EBP	gene	EBP	Expert Review Green;Victorian Clinical Genetics Services	Chondrodysplasia Punctata		Skeletal disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Chondrodysplasia punctata, X-linked dominant, MIM# 302960				10391218;10391219		False	3	100;0;0	1.1	True		ENSG00000147155	ENSG00000147155	HGNC:3133													
GNPAT	gene	GNPAT	Expert Review Green;Victorian Clinical Genetics Services	Chondrodysplasia Punctata		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765;MONDO:0009112				9536089;11152660;21990100		False	3	100;0;0	1.1	True		ENSG00000116906	ENSG00000116906	HGNC:4416													
PEX7	gene	PEX7	Expert Review Green;Victorian Clinical Genetics Services	Chondrodysplasia Punctata		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100;MONDO:0008972				12325024		False	3	100;0;0	1.1	True		ENSG00000112357	ENSG00000112357	HGNC:8860