{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["GLOD2"],"biotype":"protein_coding","hgnc_id":"HGNC:16732","gene_name":"methylmalonyl-CoA epimerase","omim_gene":["608419"],"alias_name":["glyoxalase domain containing 2"],"gene_symbol":"MCEE","hgnc_symbol":"MCEE","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:71336814-71357369","ensembl_id":"ENSG00000124370"}},"GRch38":{"90":{"location":"2:71109684-71130239","ensembl_id":"ENSG00000124370"}}},"hgnc_date_symbol_changed":"2001-10-03"},"entity_type":"gene","entity_name":"MCEE","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16697227 - proband and sibling with mild methylmalonic aciduria were found to be homozygous for the c.139C>T, p.R47X variant, with heterozygous unaffected parents","16752391 (a case report of a patient who was homozygous for the R47X variant in MCEE, but also homozygous for a second variant in the SPR gene)","25763508 (a case homozygous for c.139C>T, p.Arg47* in the MCEE gene, and c.751A>T, p.Lys251* in the SRD gene","17823972 - sequencing of cell lines from 229 patients with elevations of methylmalonic acid excretion for which no cause was known identified 5 cell lines with MCEE variants. In fibroblast lines from two patients with the c.139C>T, p.R47X variant, WT cDNA corrected the biochemical phenotype in the cells.","16697227 - proband and sibling with mild methylmalonic aciduria were found to be homozygous for the c.139C>T, p.R47X variant, with heterozygous unaffected parents","16752391 (a case report of a patient who was homozygous for the R47X variant in MCEE, but also homozygous for a second variant in the SPR gene)","25763508 (a case homozygous for c.139C>T, p.Arg47* in the MCEE gene, and c.751A>T, p.Lys251* in the SRD gene","17823972 - sequencing of cell lines from 229 patients with elevations of methylmalonic acid excretion for which no cause was known identified 5 cell lines with MCEE variants. In fibroblast lines from two patients with the c.139C>T, p.R47X variant, WT cDNA corrected the biochemical phenotype in the cells."],"evidence":["Expert Review Green","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Expert Review","Illumina TruGenome Clinical Sequencing Services","UKGTN","Literature"],"phenotypes":["metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections","Methylmalonyl-CoA epimerase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":248,"hash_id":"5554c896bb5a161bf644a3cf","name":"Ketotic hypoglycaemia","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.2","version_created":"2017-11-05T02:37:20.297525Z","relevant_disorders":[],"stats":{"number_of_genes":44,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["GLOD2"],"biotype":"protein_coding","hgnc_id":"HGNC:16732","gene_name":"methylmalonyl-CoA epimerase","omim_gene":["608419"],"alias_name":["glyoxalase domain containing 2"],"gene_symbol":"MCEE","hgnc_symbol":"MCEE","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:71336814-71357369","ensembl_id":"ENSG00000124370"}},"GRch38":{"90":{"location":"2:71109684-71130239","ensembl_id":"ENSG00000124370"}}},"hgnc_date_symbol_changed":"2001-10-03"},"entity_type":"gene","entity_name":"MCEE","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":267,"hash_id":"5548cc07bb5a16250cc22015","name":"Hyperammonaemia","disease_group":"Metabolic disorders","disease_sub_group":"Urea Cycle disorders","status":"public","version":"1.8","version_created":"2017-11-05T02:37:20.328985Z","relevant_disorders":[],"stats":{"number_of_genes":106,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["GLOD2"],"biotype":"protein_coding","hgnc_id":"HGNC:16732","gene_name":"methylmalonyl-CoA epimerase","omim_gene":["608419"],"alias_name":["glyoxalase domain containing 2"],"gene_symbol":"MCEE","hgnc_symbol":"MCEE","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:71336814-71357369","ensembl_id":"ENSG00000124370"}},"GRch38":{"90":{"location":"2:71109684-71130239","ensembl_id":"ENSG00000124370"}}},"hgnc_date_symbol_changed":"2001-10-03"},"entity_type":"gene","entity_name":"MCEE","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Methylmalonyl-CoA epimerase deficiency (Organic acidurias)","metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections","Methylmalonyl-CoA epimerase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["GLOD2"],"biotype":"protein_coding","hgnc_id":"HGNC:16732","gene_name":"methylmalonyl-CoA epimerase","omim_gene":["608419"],"alias_name":["glyoxalase domain containing 2"],"gene_symbol":"MCEE","hgnc_symbol":"MCEE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:71336814-71357369","ensembl_id":"ENSG00000124370"}},"GRch38":{"90":{"location":"2:71109684-71130239","ensembl_id":"ENSG00000124370"}}},"hgnc_date_symbol_changed":"2001-10-03"},"entity_type":"gene","entity_name":"MCEE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Methylmalonyl-CoA epimerase deficiency (Organic acidurias)","Methylmalonyl-CoA epimerase deficiency","metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"number_of_regions":1},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["GLOD2"],"biotype":"protein_coding","hgnc_id":"HGNC:16732","gene_name":"methylmalonyl-CoA epimerase","omim_gene":["608419"],"alias_name":["glyoxalase domain containing 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a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":["GLOD2"],"biotype":"protein_coding","hgnc_id":"HGNC:16732","gene_name":"methylmalonyl-CoA epimerase","omim_gene":["608419"],"alias_name":["glyoxalase domain containing 2"],"gene_symbol":"MCEE","hgnc_symbol":"MCEE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:71336814-71357369","ensembl_id":"ENSG00000124370"}},"GRch38":{"90":{"location":"2:71109684-71130239","ensembl_id":"ENSG00000124370"}}},"hgnc_date_symbol_changed":"2001-10-03"},"entity_type":"gene","entity_name":"MCEE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16752391"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["METHYLMALONYL-COA EPIMERASE DEFICIENCY 251120"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["GLOD2"],"biotype":"protein_coding","hgnc_id":"HGNC:16732","gene_name":"methylmalonyl-CoA epimerase","omim_gene":["608419"],"alias_name":["glyoxalase domain containing 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disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}