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 ABCD1 gene ABCD1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Adrenoleukodystrophy 300100 25655951 False 3 50;0;50 1.20 False ENSG00000101986 ENSG00000101986 HGNC:61 ACBD5 gene ACBD5 Expert list;Expert Review Green Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with leukodystrophy, OMIM:618863 23105016;27899449;27799409;33427402 False 3 100;0;0 1.20 False ENSG00000107897 ENSG00000107897 HGNC:23338 ACOX1 gene ACOX1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 25655951 False 3 100;0;0 1.20 False ENSG00000161533 ENSG00000161533 HGNC:119 AGK gene AGK Expert Review Green;Illumina TruGenome Clinical Sequencing Services Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Sengers syndrome 212350 False 3 50;0;50 1.20 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGPS gene AGPS Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3 600121 11152660;21990100;25197626;24849933 False 3 0;0;0 1.20 False ENSG00000018510 ENSG00000018510 HGNC:327 AGXT gene AGXT Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hyperoxaluria, primary, type 1 259900" False 3 0;0;0 1.20 False ENSG00000172482 ENSG00000172482 HGNC:341 AMACR gene AMACR Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Alpha-methylacyl-CoA racemase deficiency 614307" 15249642;18032455;20821052;10655068 False 3 100;0;0 1.20 False ENSG00000242110 ENSG00000242110 HGNC:451 ARSE gene ARSE Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata, X-linked recessive 302950 False 3 0;0;0 1.20 False ENSG00000157399 ENSG00000157399 HGNC:719 CAT gene CAT Emory Genetics Laboratory;Expert Review Green;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acatalasemia, 614097 24025477;25772105 False 3 0;0;0 1.20 False ENSG00000121691 ENSG00000121691 HGNC:1516 DNM1L gene DNM1L Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 614388" 27328748;27145208;26992161;26825290 False 3 0;0;0 1.20 False ENSG00000087470 ENSG00000087470 HGNC:2973 DYM gene DYM Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dyggve-Melchior-Clausen disease, 223800;Smith-McCort dysplasia, 607326 False 3 100;0;0 1.20 False ENSG00000141627 ENSG00000141627 HGNC:21317 EBP gene EBP Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic 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 XLD;MEND syndrome 300960 XLR False 3 0;0;0 1.20 False ENSG00000147155 ENSG00000147155 HGNC:3133 FAR1 gene FAR1 Expert Review Green;Literature Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 25439727;model of function postulated by Honsho et al. (J. Biol. Chem. 285: 8537-8542, 2010) for the protein False 3 0;100;0 1.20 False ENSG00000197601 ENSG00000197601 HGNC:26222 GNPAT gene GNPAT Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 2 222765 False 3 0;0;0 1.20 False ENSG00000116906 ENSG00000116906 HGNC:4416 GRHPR gene GRHPR Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hyperoxaluria, primary, type II 260000" False 3 0;0;100 1.20 False ENSG00000137106 ENSG00000137106 HGNC:4570 HOGA1 gene HOGA1 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type III 613616 False 3 0;0;100 1.20 False ENSG00000241935 ENSG00000241935 HGNC:25155 HSD17B4 gene HSD17B4 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, 261515 16385454;25655951 False 3 100;0;0 1.20 False ENSG00000133835 ENSG00000133835 HGNC:5213 NSDHL gene NSDHL Emory Genetics Laboratory;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) CHILD syndrome 308050 XLD; CK syndrome 300831 XLR False 3 0;0;100 1.20 False ENSG00000147383 ENSG00000147383 HGNC:13398 PEX1 gene PEX1 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger) 214100;Peroxisome biogenesis disorder 1B (NALD/IRD) 601539 False 3 100;0;0 1.20 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger) 614870;Peroxisome biogenesis disorder 6B 614871 False 3 100;0;0 1.20 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 14B 614920" 22581968;21954064;26233629 False 3 100;0;0 1.20 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 3A (Zellweger), 614859;Peroxisome biogenesis disorder 3B 266510" False 3 100;0;0 1.20 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 11A (Zellweger) 614883;Peroxisome biogenesis disorder 11B 614885" 9480815;19449432;23716570 False 3 100;0;0 1.20 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 13A (Zellweger) 614887" 15146459;26627464;18285423 False 3 100;0;0 1.20 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A, (Zellweger), 614876;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;Peroxisomal biogenesis disorders 26870756;26644994;21826223;20647552 False 3 100;0;0 1.20 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 12A (Zellweger) 614886" 10051604;20683989 False 3 100;0;0 1.20 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger), 614866;Peroxisome biogenesis disorder 5B, 614867 23430938;21392394;25655951 False 3 100;0;0 1.20 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) 61487;Peroxisome biogenesis disorder 7B 614873 21387236;25655951;19105186;15542397 False 3 100;0;0 1.20 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) 614882 23245813;25655951;10968777 False 3 100;0;0 1.20 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 2A (Zellweger) 214110;Peroxisome biogenesis disorder 2B 202370" 26220973;27290639 False 3 50;0;50 1.20 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Heimler syndrome 2, OMIM:616617;Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862;Peroxisome biogenesis disorder 4B, OMIM:614863 29220678;20301621;25655951 False 3 100;0;0 1.20 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B, OMIM:614879;Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100 False 3 100;0;0 1.20 False ENSG00000112357 ENSG00000112357 HGNC:8860 PHYH gene PHYH Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Refsum disease, 266500 False 3 100;0;0 1.20 False ENSG00000107537 ENSG00000107537 HGNC:8940 SCP2 gene SCP2 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal " Leukoencephalopathy with dystonia and motor neuropathy 613724" 25655951;26497993 False 3 50;50;0 1.20 False ENSG00000116171 ENSG00000116171 HGNC:10606 TRIM37 gene TRIM37 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mulibrey nanism 253250" 17100991 False 3 0;100;0 1.20 False ENSG00000108395 ENSG00000108395 HGNC:7523 ABCD3 gene ABCD3 Emory Genetics Laboratory Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Bile acid synthesis defect, congenital, 5 616278" 25168382 False 1 0;0;100 1.20 False ENSG00000117528 ENSG00000117528 HGNC:67 CBS gene CBS Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types 236200; Thrombosis, hyperhomocysteinemic 236200 False 1 0;0;100 1.20 False ENSG00000160200 ENSG00000160200 HGNC:1550 IDH1 gene IDH1 Other Peroxisomal disorders Peroxisomal disorders Metabolic disorders Unknown False 1 0;0;100 1.20 False ENSG00000138413 ENSG00000138413 HGNC:5382