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 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