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 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females adrenoleukodystrophy (MONDO:0018544) Peroxisomal disease;MONDO:0019053 15811009;8651290;7825602;21700483 False 3 100;0;0 0.54 True ENSG00000101986 ENSG00000101986 HGNC:61 ACBD5 gene ACBD5 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with leukodystrophy (MIM#618863) Peroxisomal disease;MONDO:0019053 27799409;23105016 False 3 100;0;0 0.54 True ENSG00000107897 ENSG00000107897 HGNC:23338 ACOX1 gene ACOX1 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 True ENSG00000161533 ENSG00000161533 HGNC:119 ACOX2 gene ACOX2 Expert Review;Expert Review Green Peroxisomal Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 6, 617308 Peroxisomal disease;MONDO:0019053 27647924;27884763;29287774;35395098 False 3 67;33;0 0.54 True ENSG00000168306 ENSG00000168306 HGNC:120 AGPS gene AGPS Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000018510 ENSG00000018510 HGNC:327 AGXT gene AGXT Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000172482 ENSG00000172482 HGNC:341 AMACR gene AMACR Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000242110 ENSG00000242110 HGNC:451 ARSE gene ARSE Expert Review;Expert Review Green Peroxisomal Disorders Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata, X-linked recessive (MIM#302950) Peroxisomal disease;MONDO:0019053 23470839 False 3 0;100;0 0.54 True ENSG00000157399 ENSG00000157399 HGNC:719 CAT gene CAT Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000121691 ENSG00000121691 HGNC:1516 DNM1L gene DNM1L Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000087470 ENSG00000087470 HGNC:2973 FAR1 gene FAR1 Expert Review;Expert Review Green Peroxisomal Disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154);Cataracts, spastic paraparesis, and speech delay, MIM#619338 Peroxisomal disease;MONDO:0019053 25439727;33239752 False 3 50;50;0 0.54 True ENSG00000197601 ENSG00000197601 HGNC:26222 GNPAT gene GNPAT Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000116906 ENSG00000116906 HGNC:4416 HSD17B4 gene HSD17B4 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, AR (MIM#261515);Perrault syndrome 1, AR (MIM#233400) Peroxisomal disease;MONDO:0019053 27790638 False 3 100;0;0 0.54 True ENSG00000133835 ENSG00000133835 HGNC:5213 PEX1 gene PEX1 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B - MIM#614920 Peroxisomal disease;MONDO:0019053 20301621;22581968 False 3 100;0;0 0.54 True ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 Peroxisomal disease;MONDO:0019053 37493040 False 3 100;0;0 0.54 True ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110;Peroxisome biogenesis disorder 2B, MIM# 202370;Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716 Peroxisomal disease;MONDO:0019053 7719337;26220973;20301621 False 3 100;0;0 0.54 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B, MIM# 614879;Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100 Peroxisomal disease;MONDO:0019053 11781871;12522768;12325024 False 3 100;0;0 0.54 True ENSG00000112357 ENSG00000112357 HGNC:8860 PHYH gene PHYH Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Refsum disease, MIM# 266500 Peroxisomal disease;MONDO:0019053 9326939;9326940 False 3 100;0;0 0.54 True ENSG00000107537 ENSG00000107537 HGNC:8940 TRIM37 gene TRIM37 Expert Review Green;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders Unknown Peroxisomal disease;MONDO:0019053 False 3 0;0;0 0.54 False ENSG00000108395 ENSG00000108395 HGNC:7523 EBP gene EBP Expert Review;Expert Review Amber 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 (MIM#302960) Peroxisomal disease;MONDO:0019053 12509714 False 2 0;100;0 0.54 True ENSG00000147155 ENSG00000147155 HGNC:3133 SCP2 gene SCP2 Expert Review Amber;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724 Peroxisomal disease;MONDO:0019053 16685654;26497993 False 2 0;50;50 0.54 True ENSG00000116171 ENSG00000116171 HGNC:10606 ABCD3 gene ABCD3 Expert Review Red;Victorian Clinical Genetics Services Peroxisomal Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 5 (MIM#616278) Peroxisomal disease;MONDO:0019053 25168382 False 1 0;0;100 0.54 True ENSG00000117528 ENSG00000117528 HGNC:67