{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["Pituitary hormone deficiency, combined"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":131,"hash_id":"553f9744bb5a1616e5ed45e8","name":"IUGR and IGF abnormalities","disease_group":"Endocrine disorders","disease_sub_group":"Growth hormone disorders","status":"public","version":"1.29","version_created":"2019-08-05T14:01:03.716110Z","relevant_disorders":[],"stats":{"number_of_genes":110,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Pituitary hormone deficiency, combined, 2 (262600)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":483,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"","disease_sub_group":"","status":"public","version":"2.0","version_created":"2019-07-31T14:30:21.964840Z","relevant_disorders":["R159"],"stats":{"number_of_genes":50,"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."},{"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","UKGTN"],"phenotypes":["Pituitary hormone deficiency, combined, 2, 262600","Proportionate Short Stature/Small for Gestational Age","Combined Pituitary Hormone Deficiency, Recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":92,"hash_id":"573b204d8f62030defb98057","name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Hypothalamic and pituitary disorders","status":"public","version":"1.26","version_created":"2019-06-20T15:11:57.281996Z","relevant_disorders":["Kallmann syndrome","Kallmann syndrom","Idiopathic hypogonadotropic hypogonadism"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Wessex and West Midlands GLH","Expert Review Red","NHS GMS","South West GLH"],"phenotypes":["Combined Pituitary Hormone deficiency (OMIM 262600)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":650,"hash_id":null,"name":"Hypogonadotropic hypogonadism idiopathic","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-07-31T14:03:41.992857Z","relevant_disorders":["R148"],"stats":{"number_of_genes":32,"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."},{"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Emory Genetics Laboratory"],"phenotypes":["Proportionate Short Stature/Small for Gestational Age"],"mode_of_inheritance":"","tags":[],"panel":{"id":196,"hash_id":"55896ed2bb5a1671a7fef4f9","name":"Osteogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T11:35:54.595856Z","relevant_disorders":["Osteogenesis Imperfecta","R102"],"stats":{"number_of_genes":184,"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":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 262600"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"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."},{"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."},{"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Pituitary hormone deficiency, combined"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":473,"hash_id":null,"name":"Growth failure in early childhood","disease_group":"","disease_sub_group":"","status":"public","version":"1.3","version_created":"2019-08-14T09:11:49.488162Z","relevant_disorders":["R147"],"stats":{"number_of_genes":126,"number_of_strs":0,"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":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Pituitary hormone deficiency, combined, 2, 262600"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["9768691","15126542","15472175","26416826 (2015 review)","23652424","16984240"],"evidence":["Expert Review Green","Literature"],"phenotypes":["GH, TSH, LH, FSH, PRL deficiency with variable age of onset, evolving ACTH deficiency","Commonest cause of combined pituitary hormone deficit without extra pituitary manifestations","Hypoplastic or normal anterior pituitary although there have been reports of an enlarged anterior pituitary at initial scanning in childhood with spontaneous involution over time","Pituitary hormone deficiency, combined, 2, 262600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":31,"hash_id":"5763f2938f620350a1996046","name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","status":"public","version":"2.0","version_created":"2019-07-31T13:52:41.584963Z","relevant_disorders":["Congenital hypothyroidism or thyroid agenesis","R145"],"stats":{"number_of_genes":34,"number_of_strs":0,"number_of_regions":2},"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."}]}}]}