{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PFK-1","PPP1R122"],"biotype":"protein_coding","hgnc_id":"HGNC:8877","gene_name":"phosphofructokinase, muscle","omim_gene":["610681"],"alias_name":["protein phosphatase 1, regulatory subunit 122"],"gene_symbol":"PFKM","hgnc_symbol":"PFKM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:48498922-48540187","ensembl_id":"ENSG00000152556"}},"GRch38":{"90":{"location":"12:48105139-48146404","ensembl_id":"ENSG00000152556"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PFKM","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Glycogen storage disease VII, 232800","Glycogen Storage Disease Type VII","Glycogen Storage Disorders- Muscle","Glycogen Storage Disease"],"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":["PFK-1","PPP1R122"],"biotype":"protein_coding","hgnc_id":"HGNC:8877","gene_name":"phosphofructokinase, muscle","omim_gene":["610681"],"alias_name":["protein phosphatase 1, regulatory subunit 122"],"gene_symbol":"PFKM","hgnc_symbol":"PFKM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:48498922-48540187","ensembl_id":"ENSG00000152556"}},"GRch38":{"90":{"location":"12:48105139-48146404","ensembl_id":"ENSG00000152556"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PFKM","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":["PFK-1","PPP1R122"],"biotype":"protein_coding","hgnc_id":"HGNC:8877","gene_name":"phosphofructokinase, muscle","omim_gene":["610681"],"alias_name":["protein phosphatase 1, regulatory subunit 122"],"gene_symbol":"PFKM","hgnc_symbol":"PFKM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:48498922-48540187","ensembl_id":"ENSG00000152556"}},"GRch38":{"90":{"location":"12:48105139-48146404","ensembl_id":"ENSG00000152556"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PFKM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25929793","11949936","8037209"],"evidence":["Expert Review Green","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Literature","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Glycogen storage disease VII\t232800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":"55b63d7f22c1fc05fc7a185b","name":"Rhabdomyolysis and metabolic muscle disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.28","version_created":"2019-08-08T11:47:51.945935Z","relevant_disorders":[],"stats":{"number_of_genes":55,"number_of_strs":0,"number_of_regions":0},"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."}]}},{"gene_data":{"alias":["PFK-1","PPP1R122"],"biotype":"protein_coding","hgnc_id":"HGNC:8877","gene_name":"phosphofructokinase, muscle","omim_gene":["610681"],"alias_name":["protein phosphatase 1, regulatory subunit 122"],"gene_symbol":"PFKM","hgnc_symbol":"PFKM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48498922-48540187","ensembl_id":"ENSG00000152556"}},"GRch38":{"90":{"location":"12:48105139-48146404","ensembl_id":"ENSG00000152556"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PFKM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25929793","8037209","11949936"],"evidence":["Expert Review Green"],"phenotypes":["Glycogen storage disease VII"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":465,"hash_id":null,"name":"Neuromuscular disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.11","version_created":"2019-10-09T12:42:27.875560Z","relevant_disorders":["Other rare neuromuscular disorders; R381"],"stats":{"number_of_genes":245,"number_of_strs":2,"number_of_regions":5},"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":["PFK-1","PPP1R122"],"biotype":"protein_coding","hgnc_id":"HGNC:8877","gene_name":"phosphofructokinase, muscle","omim_gene":["610681"],"alias_name":["protein phosphatase 1, regulatory subunit 122"],"gene_symbol":"PFKM","hgnc_symbol":"PFKM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48498922-48540187","ensembl_id":"ENSG00000152556"}},"GRch38":{"90":{"location":"12:48105139-48146404","ensembl_id":"ENSG00000152556"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PFKM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Wessex and West Midlands GLH","London North GLH","Expert Review Green"],"phenotypes":["Glycogen storage disease VII 232800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":528,"hash_id":null,"name":"Glycogen storage disease","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-08-13T11:59:56.108304Z","relevant_disorders":["R274"],"stats":{"number_of_genes":28,"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":["PFK-1","PPP1R122"],"biotype":"protein_coding","hgnc_id":"HGNC:8877","gene_name":"phosphofructokinase, muscle","omim_gene":["610681"],"alias_name":["protein phosphatase 1, regulatory subunit 122"],"gene_symbol":"PFKM","hgnc_symbol":"PFKM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:48498922-48540187","ensembl_id":"ENSG00000152556"}},"GRch38":{"90":{"location":"12:48105139-48146404","ensembl_id":"ENSG00000152556"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PFKM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["7513946","7479776","8889589"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","BRIDGE consortium (NIHRBR-RD)"],"phenotypes":["Glycogen storage disease VII, 232800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":"58a70e858f62037e8779b2e8","name":"Cytopenias and congenital anaemias","disease_group":"Haematological disorders","disease_sub_group":"Anaemias and red cell disorders","status":"public","version":"1.73","version_created":"2019-09-23T11:25:32.403071Z","relevant_disorders":["Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria","Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria","Congenital anaemias","Early onset pancytopenia and red cell disorders","Anaemias and red cell disorders","Cytopaenias and congenital anaemias","Cytopenia and pancytopenia"],"stats":{"number_of_genes":219,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PFK-1","PPP1R122"],"biotype":"protein_coding","hgnc_id":"HGNC:8877","gene_name":"phosphofructokinase, muscle","omim_gene":["610681"],"alias_name":["protein phosphatase 1, regulatory subunit 122"],"gene_symbol":"PFKM","hgnc_symbol":"PFKM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:48498922-48540187","ensembl_id":"ENSG00000152556"}},"GRch38":{"90":{"location":"12:48105139-48146404","ensembl_id":"ENSG00000152556"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PFKM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26108272"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Glycogen storage disease VII   232800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"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":["PFK-1","PPP1R122"],"biotype":"protein_coding","hgnc_id":"HGNC:8877","gene_name":"phosphofructokinase, muscle","omim_gene":["610681"],"alias_name":["protein phosphatase 1, regulatory subunit 122"],"gene_symbol":"PFKM","hgnc_symbol":"PFKM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48498922-48540187","ensembl_id":"ENSG00000152556"}},"GRch38":{"90":{"location":"12:48105139-48146404","ensembl_id":"ENSG00000152556"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PFKM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2140573","7513946"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["232800 Glycogen storage disease VII","Glycogen storage disease VII, 232800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":518,"hash_id":null,"name":"Rare anaemia","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-23T14:44:13.433190Z","relevant_disorders":["R92"],"stats":{"number_of_genes":94,"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":["PFK-1","PPP1R122"],"biotype":"protein_coding","hgnc_id":"HGNC:8877","gene_name":"phosphofructokinase, muscle","omim_gene":["610681"],"alias_name":["protein phosphatase 1, regulatory subunit 122"],"gene_symbol":"PFKM","hgnc_symbol":"PFKM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48498922-48540187","ensembl_id":"ENSG00000152556"}},"GRch38":{"90":{"location":"12:48105139-48146404","ensembl_id":"ENSG00000152556"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PFKM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["7603526"],"evidence":["NHS GMS","Yorkshire and North East GLH","Expert Review"],"phenotypes":["Glycogen storage disease VII, 232800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":185,"hash_id":"55b7a65322c1fc05fc7a1869","name":"Limb girdle muscular dystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.89","version_created":"2019-06-20T15:15:12.994579Z","relevant_disorders":[],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"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)"}]}},{"gene_data":{"alias":["PFK-1","PPP1R122"],"biotype":"protein_coding","hgnc_id":"HGNC:8877","gene_name":"phosphofructokinase, muscle","omim_gene":["610681"],"alias_name":["protein phosphatase 1, regulatory subunit 122"],"gene_symbol":"PFKM","hgnc_symbol":"PFKM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:48498922-48540187","ensembl_id":"ENSG00000152556"}},"GRch38":{"90":{"location":"12:48105139-48146404","ensembl_id":"ENSG00000152556"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PFKM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","UKGTN","Emory Genetics Laboratory","Literature"],"phenotypes":["Glycogen storage disease VII\t232800"],"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":["PFK-1","PPP1R122"],"biotype":"protein_coding","hgnc_id":"HGNC:8877","gene_name":"phosphofructokinase, muscle","omim_gene":["610681"],"alias_name":["protein phosphatase 1, regulatory subunit 122"],"gene_symbol":"PFKM","hgnc_symbol":"PFKM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48498922-48540187","ensembl_id":"ENSG00000152556"}},"GRch38":{"90":{"location":"12:48105139-48146404","ensembl_id":"ENSG00000152556"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PFKM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Glycogen storage disease VII"],"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"}]}}]}
