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	Illumina TruGenome Clinical Sequencing Services;UKGTN	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Rhizomelic Chondrodysplasia Punctata;Rhizomelic Chondrodysplasia Punctata, Type 3; RCDP3						False	2	0;0;0	0.3	False		ENSG00000018510	ENSG00000018510	HGNC:327													
GNPAT	gene	GNPAT	Illumina TruGenome Clinical Sequencing Services;UKGTN	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Rhizomelic Chondrodysplasia Punctata;Rhizomelic Chondrodysplasia Punctata, Type 2; RCDP2						False	2	0;0;0	0.3	False		ENSG00000116906	ENSG00000116906	HGNC:4416													
PEX11B	gene	PEX11B	Emory Genetics Laboratory;Expert list;Radboud University Medical Center, Nijmegen	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders		Peroxisome biogenesis disorder 14B, 614920;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;Peroxisomal biogenesis disorders						False	2	0;0;0	0.3	False		ENSG00000131779	ENSG00000131779	HGNC:8853													
PHYH	gene	PHYH	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Peroxisomal biogenesis disorders	Peroxisomal disorders	Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Refsum disease, 266500;Refsum Disease						False	2	0;0;0	0.3	False		ENSG00000107537	ENSG00000107537	HGNC:8940