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 PEX1 gene PEX1 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal biogenesis disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger), 214100;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX1-related;Refsum Disease, Infantile; Zellweger Syndrome, ZS; Adrenoleukodystrophy, Autosomal Neonatal Form;Peroxisomal biogenesis disorders False 3 0;0;0 0.3 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 biogenesis disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger), 614870;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;Refsum Disease, Infantile; Zellweger Syndrome, ZS; Adrenoleukodystrophy, Autosomal Neonatal Form;Peroxisomal biogenesis disorders False 3 0;0;0 0.3 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal biogenesis disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger), 614859;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX12-related;Refsum Disease, Infantile; Zellweger Syndrome, ZS; Adrenoleukodystrophy, Autosomal Neonatal Form;Peroxisomal biogenesis disorders False 3 0;0;0 0.3 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Peroxisomal biogenesis disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger), 614883;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;Peroxisomal biogenesis disorders False 3 0;0;0 0.3 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Peroxisomal biogenesis disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B, 614920; Peroxisome biogenesis disorder 13A (Zellweger), 614887;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX14-related;Peroxisomal biogenesis disorders False 3 0;0;0 0.3 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Peroxisomal biogenesis 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 False 3 0;0;0 0.3 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Peroxisomal biogenesis disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger), 614886;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;Peroxisomal biogenesis disorders False 3 0;0;0 0.3 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Peroxisomal biogenesis disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger), 614866; Peroxisome biogenesis disorder 5B, 614867;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX2-related;Peroxisomal biogenesis disorders False 3 0;0;0 0.3 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal biogenesis disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 7A (Zellweger) 614872;Peroxisome biogenesis disorder 7B 614873" False 3 0;0;0 0.3 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal biogenesis disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger), 614882;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX3-related;Peroxisomal biogenesis disorders False 3 0;0;0 0.3 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Peroxisomal biogenesis disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger), 214110;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX5-related False 3 0;0;0 0.3 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Peroxisomal biogenesis disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger), 614862;Zellweger Syndrome;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX6-related;Refsum Disease, Infantile; Zellweger Syndrome, ZS; Adrenoleukodystrophy, Autosomal Neonatal Form;Peroxisomal biogenesis disorders False 3 0;0;0 0.3 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 biogenesis disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 1, 215100; Peroxisome biogenesis disorder 9B, 614879;Refsum Disease;Rhizomelic Chondrodysplasia Punctata;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;Rhizomelic Chondrodysplasia Punctata, Type 1; RCDP1;Peroxisomal biogenesis disorders False 3 0;0;0 0.3 False ENSG00000112357 ENSG00000112357 HGNC:8860 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 ABCD1 gene ABCD1 Illumina TruGenome Clinical Sequencing Services Peroxisomal biogenesis 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, X-linked False 1 0;0;100 0.3 False ENSG00000101986 ENSG00000101986 HGNC:61 ACOX1 gene ACOX1 Illumina TruGenome Clinical Sequencing Services Peroxisomal biogenesis disorders Peroxisomal disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Pseudoneonatal Adrenoleukodystrophy False 1 0;0;0 0.3 False ENSG00000161533 ENSG00000161533 HGNC:119 ARSE gene ARSE UKGTN Peroxisomal biogenesis disorders Peroxisomal disorders Metabolic disorders Chondrodysplasia Punctata 1, X-Linked Recessive; CDPX1 False 1 0;0;0 0.3 False ENSG00000157399 ENSG00000157399 HGNC:719 EBP gene EBP UKGTN Peroxisomal biogenesis disorders Peroxisomal disorders Metabolic disorders Chondrodysplasia Punctata 2, X-Linked Dominant; CDPX2 False 1 0;0;0 0.3 False ENSG00000147155 ENSG00000147155 HGNC:3133