{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PACT","RAX","HSD14","DYT16"],"biotype":"protein_coding","hgnc_id":"HGNC:9438","gene_name":"protein activator of interferon induced protein kinase EIF2AK2","omim_gene":["603424"],"alias_name":["protein activator of the interferon-induced protein kinase"],"gene_symbol":"PRKRA","hgnc_symbol":"PRKRA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:179296141-179316239","ensembl_id":"ENSG00000180228"}},"GRch38":{"90":{"location":"2:178431414-178451512","ensembl_id":"ENSG00000180228"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"PRKRA","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state \"Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance\"","25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous","25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism","25914261","22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa","18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L)","24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation","18420150 - a novel heterozygous variant c.266_267delAT","p.H89fsX20 was reported in a proband with  early childhood-onset leg dystonia (though testing in the parents was not mentioned)."],"evidence":["Expert Review Green","Expert"],"phenotypes":["Early Onset Complex Disease","Early-Onset Generalized Dystonia-Parkinsonism","Dystonia 16","early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":39,"hash_id":"58078e6e8f62030e233a8157","name":"Parkinson Disease and Complex Parkinsonism","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodegenerative disorders","status":"public","version":"1.66","version_created":"2019-06-20T15:15:15.111993Z","relevant_disorders":["Complex Parkinsonism (includes pallido-pyramidal syndromes)","Early onset and familial Parkinson's Disease"],"stats":{"number_of_genes":57,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PACT","RAX","HSD14","DYT16"],"biotype":"protein_coding","hgnc_id":"HGNC:9438","gene_name":"protein activator of interferon induced protein kinase EIF2AK2","omim_gene":["603424"],"alias_name":["protein activator of the interferon-induced protein kinase"],"gene_symbol":"PRKRA","hgnc_symbol":"PRKRA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:179296141-179316239","ensembl_id":"ENSG00000180228"}},"GRch38":{"90":{"location":"2:178431414-178451512","ensembl_id":"ENSG00000180228"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"PRKRA","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["http://www.ncbi.nlm.nih.gov/books/NBK1155/","26990861","25737287","25142429","25914261","22842711","18243799","24142417","18420150","26990861"],"evidence":["Expert Review Green","Expert","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Dystonia","Dystonia 16, 612067","early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":192,"hash_id":"553f95c9bb5a1616e5ed45bf","name":"Early onset dystonia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.81","version_created":"2019-09-23T11:22:14.418180Z","relevant_disorders":[],"stats":{"number_of_genes":111,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PACT","RAX","HSD14","DYT16"],"biotype":"protein_coding","hgnc_id":"HGNC:9438","gene_name":"protein activator of interferon induced protein kinase EIF2AK2","omim_gene":["603424"],"alias_name":["protein activator of the interferon-induced protein kinase"],"gene_symbol":"PRKRA","hgnc_symbol":"PRKRA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:179296141-179316239","ensembl_id":"ENSG00000180228"}},"GRch38":{"90":{"location":"2:178431414-178451512","ensembl_id":"ENSG00000180228"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"PRKRA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24142417","22842711","26990861","25737287","18420150","20301334","25142429","18243799","25914261"],"evidence":["Expert Review Green"],"phenotypes":["Dystonia 16, 612067","Dystonia","early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":475,"hash_id":null,"name":"Dystonia - 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adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.106","version_created":"2019-09-20T16:19:10.101841Z","relevant_disorders":["R58"],"stats":{"number_of_genes":395,"number_of_strs":18,"number_of_regions":4},"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":["PACT","RAX","HSD14","DYT16"],"biotype":"protein_coding","hgnc_id":"HGNC:9438","gene_name":"protein activator of interferon induced protein kinase EIF2AK2","omim_gene":["603424"],"alias_name":["protein activator of the interferon-induced protein kinase"],"gene_symbol":"PRKRA","hgnc_symbol":"PRKRA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:179296141-179316239","ensembl_id":"ENSG00000180228"}},"GRch38":{"90":{"location":"2:178431414-178451512","ensembl_id":"ENSG00000180228"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"PRKRA","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Dystonia 16, 612067"],"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":["PACT","RAX","HSD14","DYT16"],"biotype":"protein_coding","hgnc_id":"HGNC:9438","gene_name":"protein activator of interferon induced protein kinase EIF2AK2","omim_gene":["603424"],"alias_name":["protein activator of the interferon-induced protein kinase"],"gene_symbol":"PRKRA","hgnc_symbol":"PRKRA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:179296141-179316239","ensembl_id":"ENSG00000180228"}},"GRch38":{"90":{"location":"2:178431414-178451512","ensembl_id":"ENSG00000180228"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"PRKRA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24142417","22842711","26990861","25142429","18420150 - a novel heterozygous variant c.266_267delAT","PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance","p.H89fsX20 was reported in a proband with  early childhood-onset leg dystonia (though testing in the parents was not mentioned).","25737287","25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous","25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism","18420150","18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L)","22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa","http://www.ncbi.nlm.nih.gov/books/NBK1155/","24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation","18243799","25914261"],"evidence":["NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["Early-Onset Generalized Dystonia-Parkinsonism","Early Onset Complex Disease","Dystonia 16","early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa","early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa","Dystonia","Dystonia 16, 612067"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":540,"hash_id":null,"name":"Adult onset movement disorder","disease_group":"","disease_sub_group":"","status":"public","version":"0.125","version_created":"2019-09-29T14:25:05.513850Z","relevant_disorders":["R56"],"stats":{"number_of_genes":202,"number_of_strs":11,"number_of_regions":1},"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)"}]}}]}