{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PTF1-p48","bHLHa29"],"biotype":"protein_coding","hgnc_id":"HGNC:23734","gene_name":"pancreas specific transcription factor, 1a","omim_gene":["607194"],"alias_name":null,"gene_symbol":"PTF1A","hgnc_symbol":"PTF1A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:23481256-23483181","ensembl_id":"ENSG00000168267"}},"GRch38":{"90":{"location":"10:23192327-23194252","ensembl_id":"ENSG00000168267"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"PTF1A","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Permanent neonatal diabetes mellitus (PNDM)","Neonatal Diabetes"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":87,"hash_id":"55d1e3f522c1fc237fbd46e9","name":"Multi-organ autoimmune diabetes","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.7","version_created":"2017-11-05T02:37:20.000817Z","relevant_disorders":[],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PTF1-p48","bHLHa29"],"biotype":"protein_coding","hgnc_id":"HGNC:23734","gene_name":"pancreas specific transcription factor, 1a","omim_gene":["607194"],"alias_name":null,"gene_symbol":"PTF1A","hgnc_symbol":"PTF1A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:23481256-23483181","ensembl_id":"ENSG00000168267"}},"GRch38":{"90":{"location":"10:23192327-23194252","ensembl_id":"ENSG00000168267"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"PTF1A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069","Permanent neonatal diabetes mellitus (PNDM)","Permanent neonatal diabetes with cerebellar agenesis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":26,"hash_id":"55a9238422c1fc6711b0c6c3","name":"Diabetes with additional phenotypes suggestive of a monogenic aetiology","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.59","version_created":"2019-06-20T15:15:00.936648Z","relevant_disorders":[],"stats":{"number_of_genes":64,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PTF1-p48","bHLHa29"],"biotype":"protein_coding","hgnc_id":"HGNC:23734","gene_name":"pancreas specific transcription factor, 1a","omim_gene":["607194"],"alias_name":null,"gene_symbol":"PTF1A","hgnc_symbol":"PTF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:23481256-23483181","ensembl_id":"ENSG00000168267"}},"GRch38":{"90":{"location":"10:23192327-23194252","ensembl_id":"ENSG00000168267"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"PTF1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15543146"],"evidence":["Expert Review Green"],"phenotypes":["Pancreatic and cerebellar agenesis,  609069"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":477,"hash_id":null,"name":"Ataxia and cerebellar anomalies - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-09-20T16:56:48.672242Z","relevant_disorders":[],"stats":{"number_of_genes":199,"number_of_strs":13,"number_of_regions":3},"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":["PTF1-p48","bHLHa29"],"biotype":"protein_coding","hgnc_id":"HGNC:23734","gene_name":"pancreas specific transcription factor, 1a","omim_gene":["607194"],"alias_name":null,"gene_symbol":"PTF1A","hgnc_symbol":"PTF1A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:23481256-23483181","ensembl_id":"ENSG00000168267"}},"GRch38":{"90":{"location":"10:23192327-23194252","ensembl_id":"ENSG00000168267"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"PTF1A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Eligibility statement prior genetic testing","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069","Permanent neonatal diabetes mellitus (PNDM)","Permanent neonatal diabetes with cerebellar agenesis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":293,"hash_id":"55a9041e22c1fc6711b0c6c0","name":"Diabetes - neonatal onset","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"2.0","version_created":"2019-07-31T13:43:22.297175Z","relevant_disorders":["Neonatal diabetes (diagnosed less than 6 months)","Neonatal diabetes","Neonatal diabetes diagnosed <6 months","R143"],"stats":{"number_of_genes":33,"number_of_strs":0,"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":"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":["PTF1-p48","bHLHa29"],"biotype":"protein_coding","hgnc_id":"HGNC:23734","gene_name":"pancreas specific transcription factor, 1a","omim_gene":["607194"],"alias_name":null,"gene_symbol":"PTF1A","hgnc_symbol":"PTF1A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:23481256-23483181","ensembl_id":"ENSG00000168267"}},"GRch38":{"90":{"location":"10:23192327-23194252","ensembl_id":"ENSG00000168267"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"PTF1A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Permanent neonatal diabetes mellitus (PNDM)","Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":152,"hash_id":"553f9745bb5a1616e5ed45e9","name":"Familial diabetes","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.38","version_created":"2019-06-20T15:15:02.453936Z","relevant_disorders":["Familial young-onset non-insulin-dependent diabetes"],"stats":{"number_of_genes":56,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PTF1-p48","bHLHa29"],"biotype":"protein_coding","hgnc_id":"HGNC:23734","gene_name":"pancreas specific transcription factor, 1a","omim_gene":["607194"],"alias_name":null,"gene_symbol":"PTF1A","hgnc_symbol":"PTF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:23481256-23483181","ensembl_id":"ENSG00000168267"}},"GRch38":{"90":{"location":"10:23192327-23194252","ensembl_id":"ENSG00000168267"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"PTF1A","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed"],"phenotypes":["Permanent neonatal diabetes mellitus (PNDM)","Permanent neonatal diabetes with cerebellar agenesis","Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":472,"hash_id":null,"name":"Monogenic diabetes","disease_group":"","disease_sub_group":"","status":"public","version":"2.1","version_created":"2019-07-31T13:20:07.800002Z","relevant_disorders":["R141"],"stats":{"number_of_genes":77,"number_of_strs":0,"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":"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":["PTF1-p48","bHLHa29"],"biotype":"protein_coding","hgnc_id":"HGNC:23734","gene_name":"pancreas specific transcription factor, 1a","omim_gene":["607194"],"alias_name":null,"gene_symbol":"PTF1A","hgnc_symbol":"PTF1A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:23481256-23483181","ensembl_id":"ENSG00000168267"}},"GRch38":{"90":{"location":"10:23192327-23194252","ensembl_id":"ENSG00000168267"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"PTF1A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15543146"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","UKGTN","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen"],"phenotypes":["Pancreatic and cerebellar agenesis,  609069"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":286,"hash_id":"568f871422c1fc1c79ca176d","name":"Cerebellar hypoplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.39","version_created":"2019-10-07T10:30:38.401018Z","relevant_disorders":["Cerebellar Hypoplasia","Pontine tegmental cap dysplasia"],"stats":{"number_of_genes":66,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PTF1-p48","bHLHa29"],"biotype":"protein_coding","hgnc_id":"HGNC:23734","gene_name":"pancreas specific transcription factor, 1a","omim_gene":["607194"],"alias_name":null,"gene_symbol":"PTF1A","hgnc_symbol":"PTF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:23481256-23483181","ensembl_id":"ENSG00000168267"}},"GRch38":{"90":{"location":"10:23192327-23194252","ensembl_id":"ENSG00000168267"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"PTF1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS","PANCREATIC AGENESIS"],"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":["PTF1-p48","bHLHa29"],"biotype":"protein_coding","hgnc_id":"HGNC:23734","gene_name":"pancreas specific transcription factor, 1a","omim_gene":["607194"],"alias_name":null,"gene_symbol":"PTF1A","hgnc_symbol":"PTF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:23481256-23483181","ensembl_id":"ENSG00000168267"}},"GRch38":{"90":{"location":"10:23192327-23194252","ensembl_id":"ENSG00000168267"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"PTF1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24212882"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069","PANCREATIC AGENESIS"],"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":["PTF1-p48","bHLHa29"],"biotype":"protein_coding","hgnc_id":"HGNC:23734","gene_name":"pancreas specific transcription factor, 1a","omim_gene":["607194"],"alias_name":null,"gene_symbol":"PTF1A","hgnc_symbol":"PTF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:23481256-23483181","ensembl_id":"ENSG00000168267"}},"GRch38":{"90":{"location":"10:23192327-23194252","ensembl_id":"ENSG00000168267"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"PTF1A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["21749365","15543146","19650412"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Pancreatic and cerebellar agenesis, 609069"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["watchlist"],"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":["PTF1-p48","bHLHa29"],"biotype":"protein_coding","hgnc_id":"HGNC:23734","gene_name":"pancreas specific transcription factor, 1a","omim_gene":["607194"],"alias_name":null,"gene_symbol":"PTF1A","hgnc_symbol":"PTF1A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:23481256-23483181","ensembl_id":"ENSG00000168267"}},"GRch38":{"90":{"location":"10:23192327-23194252","ensembl_id":"ENSG00000168267"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"PTF1A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21749365","15543146","10507728"],"evidence":["Expert Review Green"],"phenotypes":["DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS"],"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"}]}}]}
