{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PH"],"biotype":"protein_coding","hgnc_id":"HGNC:8582","gene_name":"phenylalanine hydroxylase","omim_gene":["612349"],"alias_name":["phenylalanine 4-monooxygenase"],"gene_symbol":"PAH","hgnc_symbol":"PAH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:103230663-103352188","ensembl_id":"ENSG00000171759"}},"GRch38":{"90":{"location":"12:102836885-102958410","ensembl_id":"ENSG00000171759"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27159321","25527826","28334938","20301621","24357685"],"evidence":["Expert Review Green","NHS GMS","Yorkshire and North East GLH"],"phenotypes":["Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":579,"hash_id":null,"name":"White matter disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.21","version_created":"2019-09-13T16:22:23.981754Z","relevant_disorders":["R62"],"stats":{"number_of_genes":77,"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)"}]}},{"gene_data":{"alias":["PH"],"biotype":"protein_coding","hgnc_id":"HGNC:8582","gene_name":"phenylalanine hydroxylase","omim_gene":["612349"],"alias_name":["phenylalanine 4-monooxygenase"],"gene_symbol":"PAH","hgnc_symbol":"PAH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:103230663-103352188","ensembl_id":"ENSG00000171759"}},"GRch38":{"90":{"location":"12:102836885-102958410","ensembl_id":"ENSG00000171759"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","SFARI"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":657,"hash_id":null,"name":"Autism","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-06-20T15:10:14.437740Z","relevant_disorders":[],"stats":{"number_of_genes":733,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Research","slug":"research","description":"This is a gene panel used for research."}]}},{"gene_data":{"alias":["PH"],"biotype":"protein_coding","hgnc_id":"HGNC:8582","gene_name":"phenylalanine hydroxylase","omim_gene":["612349"],"alias_name":["phenylalanine 4-monooxygenase"],"gene_symbol":"PAH","hgnc_symbol":"PAH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:103230663-103352188","ensembl_id":"ENSG00000171759"}},"GRch38":{"90":{"location":"12:102836885-102958410","ensembl_id":"ENSG00000171759"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAH","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308","24816252"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN","Literature"],"phenotypes":["Phenylketonuria\t261600","[Hyperphenylalaninemia, non-PKU mild]\t261600"],"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":["PH"],"biotype":"protein_coding","hgnc_id":"HGNC:8582","gene_name":"phenylalanine hydroxylase","omim_gene":["612349"],"alias_name":["phenylalanine 4-monooxygenase"],"gene_symbol":"PAH","hgnc_symbol":"PAH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:103230663-103352188","ensembl_id":"ENSG00000171759"}},"GRch38":{"90":{"location":"12:102836885-102958410","ensembl_id":"ENSG00000171759"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","24816252"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Phenylketonuria"],"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":["PH"],"biotype":"protein_coding","hgnc_id":"HGNC:8582","gene_name":"phenylalanine hydroxylase","omim_gene":["612349"],"alias_name":["phenylalanine 4-monooxygenase"],"gene_symbol":"PAH","hgnc_symbol":"PAH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:103230663-103352188","ensembl_id":"ENSG00000171759"}},"GRch38":{"90":{"location":"12:102836885-102958410","ensembl_id":"ENSG00000171759"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["PHENYLKETONURIA","NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA"],"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":["PH"],"biotype":"protein_coding","hgnc_id":"HGNC:8582","gene_name":"phenylalanine hydroxylase","omim_gene":["612349"],"alias_name":["phenylalanine 4-monooxygenase"],"gene_symbol":"PAH","hgnc_symbol":"PAH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:103230663-103352188","ensembl_id":"ENSG00000171759"}},"GRch38":{"90":{"location":"12:102836885-102958410","ensembl_id":"ENSG00000171759"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2840952","1360590","2884570","1301201","7981714","8829656","1769645","3008810","1358789","1363838","2574002","8088845","8097261","1312992","2564729","1349576","2044609","1671881","2014802","2573272","1679030","9950317","1301200","8098245","8364546","1975559","2309142","1301193","1671810","1682235","1709636","2035532","1363837","2071149","2816939","1301947","2606484","11935335","1997387"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA 261600","PHENYLKETONURIA 261600"],"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":["PH"],"biotype":"protein_coding","hgnc_id":"HGNC:8582","gene_name":"phenylalanine hydroxylase","omim_gene":["612349"],"alias_name":["phenylalanine 4-monooxygenase"],"gene_symbol":"PAH","hgnc_symbol":"PAH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:103230663-103352188","ensembl_id":"ENSG00000171759"}},"GRch38":{"90":{"location":"12:102836885-102958410","ensembl_id":"ENSG00000171759"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27830119","29560316","29025426","29899773","29579554"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Phenylketonuria 261600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"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":["PH"],"biotype":"protein_coding","hgnc_id":"HGNC:8582","gene_name":"phenylalanine hydroxylase","omim_gene":["612349"],"alias_name":["phenylalanine 4-monooxygenase"],"gene_symbol":"PAH","hgnc_symbol":"PAH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:103230663-103352188","ensembl_id":"ENSG00000171759"}},"GRch38":{"90":{"location":"12:102836885-102958410","ensembl_id":"ENSG00000171759"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAH","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Phenylketonuria, 261600[Hyperphenylalaninemia, non-PKU mild], 261600","NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA (NON-PKU HPA)"],"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"}]}}]}
