{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["P4H-TM","PHD4","PH4","HIFPH4","FLJ20262","EGLN4","PH-4"],"biotype":"protein_coding","hgnc_id":"HGNC:28858","gene_name":"prolyl 4-hydroxylase, transmembrane","omim_gene":["614584"],"alias_name":["Prolyl hydroxlase domain-containing 4","hypoxia inducible factor prolyl 4 hydroxylase"],"gene_symbol":"P4HTM","hgnc_symbol":"P4HTM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49027319-49044587","ensembl_id":"ENSG00000178467"}},"GRch38":{"90":{"location":"3:48989886-49007154","ensembl_id":"ENSG00000178467"}}},"hgnc_date_symbol_changed":"2008-12-08"},"entity_type":"gene","entity_name":"P4HTM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["30940925"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review","Expert Review Green","Expert Review Green","Expert Review","Literature"],"phenotypes":["Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493","Seizures","Intellectual disability","Global developmental delay"],"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":["P4H-TM","PHD4","PH4","HIFPH4","FLJ20262","EGLN4","PH-4"],"biotype":"protein_coding","hgnc_id":"HGNC:28858","gene_name":"prolyl 4-hydroxylase, transmembrane","omim_gene":["614584"],"alias_name":["Prolyl hydroxlase domain-containing 4","hypoxia inducible factor prolyl 4 hydroxylase"],"gene_symbol":"P4HTM","hgnc_symbol":"P4HTM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49027319-49044587","ensembl_id":"ENSG00000178467"}},"GRch38":{"90":{"location":"3:48989886-49007154","ensembl_id":"ENSG00000178467"}}},"hgnc_date_symbol_changed":"2008-12-08"},"entity_type":"gene","entity_name":"P4HTM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["30940925","25078763"],"evidence":["Expert Review","Expert Review Green","Expert Review","Literature"],"phenotypes":["Abnormality of the eye","Seizures","Dysautonomia","Central hypotonia","Muscular hypotonia","Hypoventilation","Intellectual disability","Sleep apnea","Global developmental delay","Central hypotonia, Muscular hypotonia, Global developmental delay, Intellectual disability, Seizures, Abnormality of the eye, Hypoventilation, Sleep apnea, Dysautonomia"],"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"}]}}]}