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;Radboud University Medical Center, Nijmegen;UKGTN	Chondrodysplasia punctata	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Rhizomelic chondrodysplasia punctata, type 3, 600121 						False	3	100;0;0	1.6	True		ENSG00000018510	ENSG00000018510	HGNC:327													
ARSE	gene	ARSE	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Chondrodysplasia punctata	Skeletal dysplasias	Skeletal disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Chondrodysplasia punctata, X-linked recessive, 302950;X-linked recessive chondrodysplasia punctata;CHONDRODYSPLASIA PUNCTATA 1, X-LINKED						False	3	100;0;0	1.6	True		ENSG00000157399	ENSG00000157399	HGNC:719													
EBP	gene	EBP	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Chondrodysplasia punctata	Skeletal dysplasias	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, 302960;X-linked dominant chondrodysplasia punctata;MEND syndrome						False	3	100;0;0	1.6	True		ENSG00000147155	ENSG00000147155	HGNC:3133													
GNPAT	gene	GNPAT	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Chondrodysplasia punctata	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Rhizomelic Chondrodysplasia Punctata;Chondrodysplasia punctata, rhizomelic, type 2, 222765;Rhizomelic chondrodysplasia punctata type 2						False	3	100;0;0	1.6	True		ENSG00000116906	ENSG00000116906	HGNC:4416													
PEX7	gene	PEX7	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Chondrodysplasia punctata	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 9B, OMIM:614879;Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100						False	3	100;0;0	1.6	True		ENSG00000112357	ENSG00000112357	HGNC:8860													
C16orf62	gene	C16orf62	Expert Review Amber;Literature	Chondrodysplasia punctata	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	3C/Ritscher-Schinzel-like syndrome				31712251		False	2	0;100;0	1.6	False		ENSG00000103544	ENSG00000103544	HGNC:24641