{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ10718","MLAT4"],"biotype":"protein_coding","hgnc_id":"HGNC:19317","gene_name":"prolyl 3-hydroxylase 2","omim_gene":["610341"],"alias_name":["procollagen-proline 3-dioxygenase 2"],"gene_symbol":"P3H2","hgnc_symbol":"P3H2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:189674517-189840226","ensembl_id":"ENSG00000090530"}},"GRch38":{"90":{"location":"3:189956728-190122437","ensembl_id":"ENSG00000090530"}}},"hgnc_date_symbol_changed":"2014-12-12"},"entity_type":"gene","entity_name":"P3H2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Guo et al (2014) Clin Genet 86:575-579 PMID: 24172257","Khan et al (2015) Ophthalmic Genet. 36: 58-63 PMID: 25469533","Mordechai et al (2011) Hum. Genet. 89: 438-445 PMID: 21885030"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":230,"hash_id":"553f979fbb5a1616e5ed45f8","name":"Cataracts","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:52:22.701027Z","relevant_disorders":["R31"],"stats":{"number_of_genes":172,"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."}]}},{"gene_data":{"alias":["FLJ10718","MLAT4"],"biotype":"protein_coding","hgnc_id":"HGNC:19317","gene_name":"prolyl 3-hydroxylase 2","omim_gene":["610341"],"alias_name":["procollagen-proline 3-dioxygenase 2"],"gene_symbol":"P3H2","hgnc_symbol":"P3H2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:189674517-189840226","ensembl_id":"ENSG00000090530"}},"GRch38":{"90":{"location":"3:189956728-190122437","ensembl_id":"ENSG00000090530"}}},"hgnc_date_symbol_changed":"2014-12-12"},"entity_type":"gene","entity_name":"P3H2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3"],"mode_of_inheritance":"","tags":[],"panel":{"id":307,"hash_id":"56e0238b22c1fc09c97a6e46","name":"Retinal disorders","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"1.199","version_created":"2019-10-08T09:22:18.436205Z","relevant_disorders":["Posterior segment abnormalities","Cone Dysfunction Syndrome","Developmental macular and foveal dystrophy","Inherited macular dystrophy","Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy","Rod Dysfunction Syndrome","Rod-cone dystrophy","Familial exudative vitreoretinopathy","Familial exudative retinopathy","R32","R33","R34","R35"],"stats":{"number_of_genes":320,"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":["FLJ10718","MLAT4"],"biotype":"protein_coding","hgnc_id":"HGNC:19317","gene_name":"prolyl 3-hydroxylase 2","omim_gene":["610341"],"alias_name":["procollagen-proline 3-dioxygenase 2"],"gene_symbol":"P3H2","hgnc_symbol":"P3H2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:189674517-189840226","ensembl_id":"ENSG00000090530"}},"GRch38":{"90":{"location":"3:189956728-190122437","ensembl_id":"ENSG00000090530"}}},"hgnc_date_symbol_changed":"2014-12-12"},"entity_type":"gene","entity_name":"P3H2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS"],"phenotypes":["MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, 614292"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"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)"}]}}]}