{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12828","gene_name":"X-ray repair cross complementing 1","omim_gene":["194360"],"alias_name":null,"gene_symbol":"XRCC1","hgnc_symbol":"XRCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:44047192-44084625","ensembl_id":"ENSG00000073050"}},"GRch38":{"90":{"location":"19:43543040-43580473","ensembl_id":"ENSG00000073050"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"XRCC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28002403"],"evidence":["Expert Review Red"],"phenotypes":["ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:12828","gene_name":"X-ray repair cross complementing 1","omim_gene":["194360"],"alias_name":null,"gene_symbol":"XRCC1","hgnc_symbol":"XRCC1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:44047192-44084625","ensembl_id":"ENSG00000073050"}},"GRch38":{"90":{"location":"19:43543040-43580473","ensembl_id":"ENSG00000073050"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"XRCC1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28002403"],"evidence":["Literature"],"phenotypes":["ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":20,"hash_id":"559a7d1022c1fc58ad67fc97","name":"Hereditary ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.202","version_created":"2019-06-20T15:15:07.878228Z","relevant_disorders":[],"stats":{"number_of_genes":160,"number_of_strs":14,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12828","gene_name":"X-ray repair cross complementing 1","omim_gene":["194360"],"alias_name":null,"gene_symbol":"XRCC1","hgnc_symbol":"XRCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:44047192-44084625","ensembl_id":"ENSG00000073050"}},"GRch38":{"90":{"location":"19:43543040-43580473","ensembl_id":"ENSG00000073050"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"XRCC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28002403"],"evidence":["Expert Review Red"],"phenotypes":["ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":474,"hash_id":null,"name":"Neurodegenerative disorders - 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:12828","gene_name":"X-ray repair cross complementing 1","omim_gene":["194360"],"alias_name":null,"gene_symbol":"XRCC1","hgnc_symbol":"XRCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:44047192-44084625","ensembl_id":"ENSG00000073050"}},"GRch38":{"90":{"location":"19:43543040-43580473","ensembl_id":"ENSG00000073050"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"XRCC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29472272","28002403"],"evidence":["NHS GMS","London North GLH"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 26, 617633","Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":85,"hash_id":"55ad205422c1fc7041340234","name":"Hereditary neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.333","version_created":"2019-07-09T13:10:50.031506Z","relevant_disorders":["Charcot-Marie-Tooth disease"],"stats":{"number_of_genes":276,"number_of_strs":11,"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."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12828","gene_name":"X-ray repair cross complementing 1","omim_gene":["194360"],"alias_name":null,"gene_symbol":"XRCC1","hgnc_symbol":"XRCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:44047192-44084625","ensembl_id":"ENSG00000073050"}},"GRch38":{"90":{"location":"19:43543040-43580473","ensembl_id":"ENSG00000073050"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"XRCC1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28002403"],"evidence":["Expert Review Amber","London North GLH","NHS GMS","Wessex and West Midlands GLH","Hereditary ataxia v1.148"],"phenotypes":["ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia","Autosomal recessive spinocerebellar ataxia 26, 617633"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["watchlist"],"panel":{"id":466,"hash_id":null,"name":"Hereditary ataxia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.211","version_created":"2019-09-20T14:18:40.957460Z","relevant_disorders":["Hereditary ataxia with onset in adulthood","R54"],"stats":{"number_of_genes":236,"number_of_strs":13,"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."}]}}]}
