{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["THIL"],"biotype":"protein_coding","hgnc_id":"HGNC:93","gene_name":"acetyl-CoA acetyltransferase 1","omim_gene":["607809"],"alias_name":["acetoacetyl Coenzyme A thiolase"],"gene_symbol":"ACAT1","hgnc_symbol":"ACAT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:107992243-108018503","ensembl_id":"ENSG00000075239"}},"GRch38":{"90":{"location":"11:108121516-108147776","ensembl_id":"ENSG00000075239"}}},"hgnc_date_symbol_changed":"1991-08-12"},"entity_type":"gene","entity_name":"ACAT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Daum RS, Scriver CR 1973 and Fukao T , Yamaguchi S, Kano 1990"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Fasting intolerance with acidosis, ? residual neurological problems"],"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":["THIL"],"biotype":"protein_coding","hgnc_id":"HGNC:93","gene_name":"acetyl-CoA acetyltransferase 1","omim_gene":["607809"],"alias_name":["acetoacetyl Coenzyme A thiolase"],"gene_symbol":"ACAT1","hgnc_symbol":"ACAT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:107992243-108018503","ensembl_id":"ENSG00000075239"}},"GRch38":{"90":{"location":"11:108121516-108147776","ensembl_id":"ENSG00000075239"}}},"hgnc_date_symbol_changed":"1991-08-12"},"entity_type":"gene","entity_name":"ACAT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["3-Oxothiolase deficiency (Organic acidurias)","Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism)","Fasting intolerance with acidosis, ? residual neurological problems"],"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":["THIL"],"biotype":"protein_coding","hgnc_id":"HGNC:93","gene_name":"acetyl-CoA acetyltransferase 1","omim_gene":["607809"],"alias_name":["acetoacetyl Coenzyme A thiolase"],"gene_symbol":"ACAT1","hgnc_symbol":"ACAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:107992243-108018503","ensembl_id":"ENSG00000075239"}},"GRch38":{"90":{"location":"11:108121516-108147776","ensembl_id":"ENSG00000075239"}}},"hgnc_date_symbol_changed":"1991-08-12"},"entity_type":"gene","entity_name":"ACAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Red","NHS GMS","London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism)","Fasting intolerance with acidosis, ? residual neurological problems","3-Oxothiolase deficiency (Organic acidurias)"],"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":["THIL"],"biotype":"protein_coding","hgnc_id":"HGNC:93","gene_name":"acetyl-CoA acetyltransferase 1","omim_gene":["607809"],"alias_name":["acetoacetyl Coenzyme A thiolase"],"gene_symbol":"ACAT1","hgnc_symbol":"ACAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:107992243-108018503","ensembl_id":"ENSG00000075239"}},"GRch38":{"90":{"location":"11:108121516-108147776","ensembl_id":"ENSG00000075239"}}},"hgnc_date_symbol_changed":"1991-08-12"},"entity_type":"gene","entity_name":"ACAT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Alpha-methylacetoacetic aciduria, 203750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":539,"hash_id":null,"name":"Possible mitochondrial disorder - nuclear genes","disease_group":"","disease_sub_group":"","status":"public","version":"1.12","version_created":"2019-09-16T14:57:01.996850Z","relevant_disorders":["R63"],"stats":{"number_of_genes":374,"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":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}},{"gene_data":{"alias":["THIL"],"biotype":"protein_coding","hgnc_id":"HGNC:93","gene_name":"acetyl-CoA acetyltransferase 1","omim_gene":["607809"],"alias_name":["acetoacetyl Coenzyme A thiolase"],"gene_symbol":"ACAT1","hgnc_symbol":"ACAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:107992243-108018503","ensembl_id":"ENSG00000075239"}},"GRch38":{"90":{"location":"11:108121516-108147776","ensembl_id":"ENSG00000075239"}}},"hgnc_date_symbol_changed":"1991-08-12"},"entity_type":"gene","entity_name":"ACAT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["ALPHA-METHYLACETOACETIC ACIDURIA"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"number_of_strs":0,"number_of_regions":0},"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."}]}},{"gene_data":{"alias":["THIL"],"biotype":"protein_coding","hgnc_id":"HGNC:93","gene_name":"acetyl-CoA acetyltransferase 1","omim_gene":["607809"],"alias_name":["acetoacetyl Coenzyme A thiolase"],"gene_symbol":"ACAT1","hgnc_symbol":"ACAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:107992243-108018503","ensembl_id":"ENSG00000075239"}},"GRch38":{"90":{"location":"11:108121516-108147776","ensembl_id":"ENSG00000075239"}}},"hgnc_date_symbol_changed":"1991-08-12"},"entity_type":"gene","entity_name":"ACAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1979337","11914035","7907600","9700610","4690360","1715688","1627655","1346617"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["ALPHA-METHYLACETOACETIC ACIDURIA 203750"],"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":["THIL"],"biotype":"protein_coding","hgnc_id":"HGNC:93","gene_name":"acetyl-CoA acetyltransferase 1","omim_gene":["607809"],"alias_name":["acetoacetyl Coenzyme A thiolase"],"gene_symbol":"ACAT1","hgnc_symbol":"ACAT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:107992243-108018503","ensembl_id":"ENSG00000075239"}},"GRch38":{"90":{"location":"11:108121516-108147776","ensembl_id":"ENSG00000075239"}}},"hgnc_date_symbol_changed":"1991-08-12"},"entity_type":"gene","entity_name":"ACAT1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Amber","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Gene2Phenotype confirmed gene with ID HPO"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like 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"}]}},{"gene_data":{"alias":["THIL"],"biotype":"protein_coding","hgnc_id":"HGNC:93","gene_name":"acetyl-CoA acetyltransferase 1","omim_gene":["607809"],"alias_name":["acetoacetyl Coenzyme A thiolase"],"gene_symbol":"ACAT1","hgnc_symbol":"ACAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:107992243-108018503","ensembl_id":"ENSG00000075239"}},"GRch38":{"90":{"location":"11:108121516-108147776","ensembl_id":"ENSG00000075239"}}},"hgnc_date_symbol_changed":"1991-08-12"},"entity_type":"gene","entity_name":"ACAT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","NHS GMS"],"phenotypes":["Alpha-methylacetoacetic aciduria, 203750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":112,"hash_id":"55928cf522c1fc4f7d26e960","name":"Mitochondrial disorders","disease_group":"Metabolic disorders","disease_sub_group":"Mitochondrial","status":"public","version":"2.1","version_created":"2019-10-01T15:59:44.993681Z","relevant_disorders":["Lactic acidosis","All recognised syndromes and those with suggestive features"],"stats":{"number_of_genes":467,"number_of_strs":2,"number_of_regions":1},"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"},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}}]}