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 DYM gene DYM Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Other peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dyggve-Melchior-Clausen disease, 223800;Smith-McCort dysplasia, 607326 False 3 0;0;100 0.5 False ENSG00000141627 ENSG00000141627 HGNC:21317 AMACR gene AMACR Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Alpha-methylacyl-CoA racemase deficiency, 614307;Alpha-Methylacyl-CoA Racemase Deficiency False 2 100;0;0 0.5 False ENSG00000242110 ENSG00000242110 HGNC:451 HSD17B4 gene HSD17B4 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, 261515; Perrault syndrome 1, 233400;Peroxisomal Bifunctional Enzyme Deficiency False 2 100;0;0 0.5 False ENSG00000133835 ENSG00000133835 HGNC:5213 TRIM37 gene TRIM37 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism, 253250;Mulibrey Nanism False 2 0;100;0 0.5 False ENSG00000108395 ENSG00000108395 HGNC:7523 ABCD1 gene ABCD1 Expert list Other peroxisomal disorders Peroxisomal disorders Metabolic disorders Peroxisomal (other) False 1 0;0;100 0.5 False ENSG00000101986 ENSG00000101986 HGNC:61 ACOX1 gene ACOX1 Radboud University Medical Center, Nijmegen Other peroxisomal disorders Peroxisomal disorders Metabolic disorders Peroxisomal acyl-CoA oxidase deficiency, 264470 False 1 0;0;0 0.5 False ENSG00000161533 ENSG00000161533 HGNC:119 AGK gene AGK Radboud University Medical Center, Nijmegen Other peroxisomal disorders Peroxisomal disorders Metabolic disorders Hyperoxaluria, primary, type 1, 259900 False 1 0;0;0 0.5 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGPS gene AGPS Expert list Other peroxisomal disorders Peroxisomal disorders Metabolic disorders Peroxisomal (other) False 1 0;0;0 0.5 False ENSG00000018510 ENSG00000018510 HGNC:327 AGXT gene AGXT Illumina TruGenome Clinical Sequencing Services Other peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Primary Hyperoxaluria False 1 0;0;0 0.5 False ENSG00000172482 ENSG00000172482 HGNC:341 CAT gene CAT Radboud University Medical Center, Nijmegen Other peroxisomal disorders Peroxisomal disorders Metabolic disorders Acatalasemia, 614097 False 1 0;0;0 0.5 False ENSG00000121691 ENSG00000121691 HGNC:1516 CBS gene CBS Radboud University Medical Center, Nijmegen Other peroxisomal disorders Peroxisomal disorders Metabolic disorders Acatalasemia, 614097 False 1 0;0;0 0.5 False ENSG00000160200 ENSG00000160200 HGNC:1550 DNM1L gene DNM1L Radboud University Medical Center, Nijmegen Other peroxisomal disorders Peroxisomal disorders Metabolic disorders Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 False 1 0;0;0 0.5 False ENSG00000087470 ENSG00000087470 HGNC:2973 GRHPR gene GRHPR Illumina TruGenome Clinical Sequencing Services Other peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Primary Hyperoxaluria False 1 0;0;0 0.5 False ENSG00000137106 ENSG00000137106 HGNC:4570 HOGA1 gene HOGA1 Illumina TruGenome Clinical Sequencing Services Other peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Primary Hyperoxaluria False 1 0;0;0 0.5 False ENSG00000241935 ENSG00000241935 HGNC:25155 NSDHL gene NSDHL Expert list Other peroxisomal disorders Peroxisomal disorders Metabolic disorders Peroxisomal (other) False 1 0;0;0 0.5 False ENSG00000147383 ENSG00000147383 HGNC:13398 PHYH gene PHYH Expert list Other peroxisomal disorders Peroxisomal disorders Metabolic disorders Peroxisomal (other) False 1 0;0;0 0.5 False ENSG00000107537 ENSG00000107537 HGNC:8940