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It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FATP5","VLACSR","VLCS-H2","VLCSH2","FACVL3","FLJ22987","ACSVL6","ACSB"],"biotype":"protein_coding","hgnc_id":"HGNC:10999","gene_name":"solute carrier family 27 member 5","omim_gene":["603314"],"alias_name":["fatty-acid-Coenzyme A ligase, very long-chain 3"],"gene_symbol":"SLC27A5","hgnc_symbol":"SLC27A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:58990879-59023780","ensembl_id":"ENSG00000083807"}},"GRch38":{"90":{"location":"19:58479512-58512413","ensembl_id":"ENSG00000083807"}}},"hgnc_date_symbol_changed":"1999-08-20"},"entity_type":"gene","entity_name":"SLC27A5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["22089923","27604308"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Bile acid-CoA ligase deficiency","Disorders of bile acid biosynthesis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","9501215"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Homocystinuria-megaloblastic anemia, cbl E type MIM#236270","Disorders of the metabolism of sulphur amino acids"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]}]}